Squamoid eccrine ductal carcinoma

1998

Histologic and Cytogenetic Patterns in Benign, Atypical, and Malignant Meningiomas

1995

Atypical meningiomas comprise an intermediate category of meningeal neoplasmas with some microscopic features of aggressivity and a capacity for recurrence. We present a clin ical, morphologic, and cytogenetic study of 15 meningiomas. Morphologic and cytogenetic analysis suggested the existence of morphologically typical meningiomas with normal karyotype or monosomy 22 and morphologically atypical meningiomas, with increasing chromosomal abnormalities (complex karyotype) between these two types. Present results suggest the existence of a third type of morphologically typical meningioma that lacks a phenotypical aggressivity but has a complex karyotype. These genotypical characteristics may…

Controversial issues in soft tissue solitary fibrous tumors: A pathological and molecular review

2019

The clinical evolution of solitary fibrous tumor (SFT) remains unclear. Although various clinical, morphological and molecular criteria may indicate increased risk of malignancy, some SFT can still progress despite having a clearly benign appearance. Various risk stratification systems have been proposed, but unfortunately they are not sufficient to precisely determine the malignant potential. In this review, we discuss current knowledge on SFT, focusing on the following controversial issues: (i) the diverse morphologic spectrum: 'the great simulator;' (ii) malignant transformation or dedifferentiation; (iii) current risk stratification systems; and (iv) molecular factors associated with cl…

A New Mutation of the p53 Gene in Human Neuroblastoma, Not Correlated with N-myc Amplification

1999

N-myc gene amplification and/or loss of heterozygosity of chromosome 1 (LOH lp) are important criteria for prognosis and progression in human neuroblastoma (NB). Despite the high incidence of alterations of the p53 gene in human cancers, very few p53 mutations have been reported in NB. The objective of our study was to search for p53 mutations in NB and their correlation with N-myc amplification and clinical or pathologic parameters. We analyzed 14 selected cases of NB from the Spanish Protocol N-II-92. We found a missense mutation in codon 248 CGG to GGG (Arg/Gly) in one case of stage 4 NB with no N-myc amplification. Our results confirm the low incidence of p53 gene mutation in neuroblas…

Study of Proliferation and Apoptosis in Neuroblastoma. Their Relation with Other Prognostic Factors

2002

Abstract Background Our objective was to study the proliferation and apoptotic process in 111 cases of neuroblastoma (NB) and to seek their relationship with other prognostic factors and survival. Methods Immunohistochemistry following ABC peroxidase was carried out for PCNA, Ki-67, bcl-2, and p53 proteins. Apoptosis analysis was performed with in situ detection of chromosomal breakdown. Molecular detection of DNA ladders by electrophoresis and amplification of MYCN was studied with PCR and Southern blot. Statistical study was performed with Pearson χ 2 and Kruskal-Wallis tests and Cox regression. Results Our results indicate that proliferative factors PCNA and Ki-67 were correlated to each…

Angiosarcomas y síndrome de Kasabach-Merritt, una asociación con evolución clínica agresiva. A propósito de 2 casos con estudio necrópsico

2015

Resumen Los angiosarcomas son neoplasias malignas agresivas con diferenciacion de celulas endoteliales. La hemorragia espontanea debida a una coagulacion intravascular diseminada con coagulopatia de consumo es una forma poco comun de presentacion de estos tumores denominada sindrome de Kasabach-Merritt. En el presente estudio describimos 2 casos con estudio necropsico de angiosarcomas complicado con sindrome de Kasabach-Merritt. El primer caso con diagnostico de angiosarcoma mediastinico asociado a un tumor de celulas germinales y el segundo caso con angiosarcoma primario hepatico y multiples metastasis.

CHARACTERIZATION OF A NEW RAT CELL LINE ESTABLISHED FROM 2′AAF-INDUCED COMBINED HEPATOCELLULAR CHOLANGIOCELLULAR CARCINOMA

2001

A rat cell line-nominated CC-62 derived from a combined hepatocellular and cholangiocellular carcinoma obtained by administration of 2-acetylaminofluorene to male Wistar rats, has been established. Using light and electron microscopy it was determined that morphologically the tumor consisted of a mixed population of hepatocytes and cholangiolar neoplastic cells, intermingled with small, undifferentiated oval-like cells. The CC-62 line has been maintained through 90 passages in culture adopting a paving stone arrangement. Doubling time at the 12th passage was 23 h. Immunostaining with a panel of antisera was performed to identify the cytological profiles of the cell line. There was no k-ras …

Involvement of the long arm of chromosome 9 in medulloblastoma in an adult.

1997

Abstract Medulloblastoma is the most common primitive neuroectodermal tumor (PNET) in children, but is very rare in adults. An isochromosome for the long arms of 17, i(17q), is found in about 30% of pediatric cases. Cytogenetic studies in adults are very scarce; only six cases have been described cytogenetically: three cases had normal karyotype, two were studied partially, and another presented only two clonal structural anomalies: del(9)(q12) and del(11)(q22). We studied the chromosomes from medulloblastoma in a 27-year-old woman and found one hypotetraploid stemline with clonal alterations. In the structural anomalies, chromosomes 3, 9, 12, and i(17q) were involved. Chromosome 9 presente…

Fibroblast and Myofibroblast Participation in Malignant Fibrous Histiocytoma (MFH) of Bone

1989

Eight malignant fibrous histiocytomas (MFH) of bone were studied with immunohistochemistry and electron microscopy. Ultrastructurally, fibroblasts and myofibroblasts were the main tumor cells in four cases and abundant in two other cases; these cells showed immunohistochemical positivity to alpha 1-antitrypsin, vimentin and anti-muscle antigen (HHF 35). Moreover, histiocytic-like tumor cells were electron-microscopically detected in four cases, being the main tumor cell type in two of the cases; immunohistochemically these cells expressed positivity to alpha-1-antichymotrypsin (A1ACT), alpha-1-antitrypsin (A1AT) and vimentin. Present results confirm the cellular heterogeneity of MFH of bone…

Immunohistochemical detection of EWS and FLI-1 proteinss in Ewing sarcoma and primitive neuroectodermal tumors: comparative analysis with CD99 (MIC-2…

2001

The molecular analysis of the t(11;22) rearrangement involving EWS/FLI-1 genes is likely to be of diagnostic value in Ewing sarcoma (ES) and primitive neuroectodermal tumors (PNET). The objective of the current study was to analyze the immunohistochemical expression of the EWS and FLI-1 proteins in a group of small round-cell tumors (SRCT) to determine their specificity and relevance in their differential diagnosis. Forty-eight cases-10 conventional ES, 4 large-cell ES, 5 PNET, 9 neuroblastomas (NB), 6 undifferentiated synovial sarcomas (SS), 5 rhabdomyosarcomas (RB), 5 non-Hodgkin lymphomas (NHL), 1 round-cell liposarcoma, and 3 mesenchymal chondrosarcomas-were analyzed. Immunocytochemistr…

Molecular Alterations of the RBI, TP53, and MDM2 Genes in Primary and Xenografted Human Osteosarcomas

1997

We report the status of the RBI, TP53, and MDM2 genes in human osteosarcomas and cell lines established from surgical specimens and transplanted into athymic naked mice. By using reverse transcriptase-polymerase chain reaction (RT-PCR) as a prescreening technique and posterior sequencing, we observe

Estrogen-Induced Mutations and Its Role in the Development of Tumorigenesis

2006

Using RAPD-PCR fingerprinting, the detection of mutations induced by estrogen (E) exposure was studied in nonmalignant- and malignant cells. Cells exposed to 17α-and 17β-estradiol, diethylstilbestrol, bisphenol A, and α-zearalanol induced mutations in different regions of the genome. They consisted of insertion/deletion as a result of point or length mutations and quantitative changes as a result of hypoploidy or polyploidy. We also detected several mutated loci in tumor-free tissues, adjacent to tumors, and DES-induced tumors. The data suggest that these mutations occurred in early stages of stilbene E-induced renal carcinogenesis, and that they may be induced as a result of stilbene E tre…

The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.

2014

The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …

Identification of a 58-kilodalton cell surface fibrinogen-binding mannoprotein from Candida albicans.

1992

Treatment of both yeast (blastoconidia) and hyphal (blastoconidia with germ tubes) cells of Candida albicans with beta-mercaptoethanol (beta ME) releases a complex array of cell wall-bound proteins and glycoproteins. Analysis by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western immunoblotting with fibrinogen-anti-fibrinogen antibody allowed the identification of a 58-kDa mannoprotein (mp58) in both extracts which specifically interacts with human fibrinogen. Treatment of intact cells with low concentrations of beta-glucanase (Zymolyase 20T) for short periods or with beta ME abolished or significantly reduced binding of fibrinogen. A rabbit polyclonal antiserum was raised…

Chromophobe Renal Cell Carcinoma

1996

SUMMARY A case ofchromophobe renal cell carcinoma is reported in a 73 year-old man. Light microscopically, the tumor was composed of polygonal cells with a slightly eosinophilic and a fine reticular pattern, and a reaction of the cytoplasm with Hale's acid iron colloid. Ultrastructural analysis showed membranous microuesicles within the tumor cells, with degenerated mitochondria. Immunohistochemical profile against intermediate filaments was positive to cytokeratin 18 and negative against uimentin. Flow cytometry and cytogenetics revealed a predominant bypertriploid population. Few cases have been published with flow cytometry and cytogenetic findings. We report a new case.

TuBaFrost: European Virtual Tumor Tissue Banking

2006

TuBaFrost is a consortium responsible for the task to create a virtual European human frozen tumor tissue bank, composed of high quality frozen tumor tissue collections with corresponding accurate diagnosis stored in European cancer centers and universities, searchable on the Internet, providing rules for access and use and a code of conduct to comply with the various legal and ethical regulations in European countries. Such infrastructure would enlarge tissue availability and accessibility in large amounts of specified or even rare tumor samples. Design of an infrastructure for European residual tissue banking with the described characteristics, clear focus points emerge that can be broken…

Biomarkers in the Ewing sarcoma family of tumors

2014

Sarcoma de estroma endometrial. Estudio clinicopatológico e inmunofenotípico de 5 casos

2007

Introducción: El sarcoma de estroma endometrial uterino es un tumor muy poco frecuente con una incidencia de 0,4 -3,4 por 100.000 mujeres, comprende menos del 1% de tumores malignos ginecológicos y el 2-5% de tumores malignos uterinos, siendo el tercer sarcoma en frecuencia después del carcinosarcoma y el leiomiosarcoma. Material y métodos: Presentamos cinco casos de sarcoma de estroma endometrial diagnosticados en un periodo de siete años con la evolución clínica de las pacientes. Resultados: Immunohistoquímicamente, estos tumores expresaban vimentina, receptores hormonales, CD10 y p53 (sarcomas de alto grado), siendo los marcadores musculares, la CK, el c-kit y ALK negativos. De estos cin…

miR‐200c and phospho‐AKT as prognostic factors and mediators of osteosarcoma progression and lung metastasis

2016

Lung metastasis is the major cause of death in osteosarcoma patients. However, molecular mechanisms underlying this metastasis remain poorly understood. To identify key molecules related with pulmonary metastasis of pediatric osteosarcomas, we analyzed high-throughput miRNA expression in a cohort of 11 primary tumors and 15 lung metastases. Results were further validated with an independent cohort of 10 primary tumors and 6 metastases. In parallel, we performed immunohistochemical analysis of activated signaling pathways in 36 primary osteosarcomas. Only phospho-AKT associated with lower overall survival in primary tumors, supporting its role in osteosarcoma progression. CTNNB1 expression a…

Neural and mesenchymal differentiations in Ewing's sarcoma cell lines. Morphological, immunophenotypic, molecular biological and cytogenetic evidence

1995

Three established Ewing's sarcoma (ES) cell lines (TC106, 6647, A4573), grown both in vitro and as xenograft tumors, were analyzed. In all 3 lines and tumors, the ES characteristic reciprocal translocation (11;22), as well as the presence of the ES-associated p30/32M1C2 antigen, were documented. However, these cell lines showed discrepancies in their neural and mesenchymal differentiation. The TC106 line was characterized by expression of the neuroendocrine marker secretogranin II (SgII) which was detectable by Northern blot and by radioimmunological detection (RIA) in the culture medium of secretoneurin, a proteolytic product of SgII. In contrast, TC106 cells were immunohistochemically and…

Tissue microarrays: applications in study of p16 and p53 alterations in Ewing's cell lines

2008

Background Tissue microarrays (TMAs) are used to study genomics and proteomics in several tumour tissue samples. Cell lines (CC) are of great importance in the study of the genetic changes in tumours, and some reveal several aspects of tumour oncogenesis. There are few published reports on Ewing's tumours with TMAs including original tumours (OT) and corresponding CC. Methods We have performed four TMAs, from 3 OT and the corresponding CC of successive in vivo and in vitro tumour passages. Xenotransplant CC in nude mice from OT (XT/OT) was made. Subsequently multiple XT were performed and in vitro XT cell line (CC/XT) was obtained. In vivo re-inoculation of CC/XT (XT/CC) was planned. TMAs w…

Diffuse Type of Giant-Cell Tumor of Tendon Sheath: An Ultrastructural Study of Two Cases With Cytogenetic Support

2002

Two cases of the diffuse type of giant-cell tumor of the tendon sheath (GCTTS) are described. Both tumors arose in the vicinity of large joints of the lower extremity, showing similar clinical and radiological features. Histologically, a proliferation of polygonal mononuclear cells was seen, together with osteoclastlike giant cells, foam cells, and siderophages. The tumors were poorly delineated, displaying an infiltrative pattern into the neighboring soft tissues. Immunohistochemically, strong expression of vimentin, neuron-specific enolase, A1-antitrypsin, and CD68 was found in both mono- and multinucleated tumor cells. At the ultrastructural level, mononuclear cells revealed a diverse mo…

Tumor response assessment by Choi criteria in localized high-risk soft tissue sarcoma (STS) treated with chemotherapy (CT): Update at 10-year follow-…

2016

11044Background: We already reported (Cancer 2012;118:5857) on better correlation of Choi criteria (Choi) than RECIST with the outcome of pts affected by high-risk STS entering a multicentric Itali...

p16INK4A (CDKN2A) gene deletion is a frequent genetic event in synovial sarcomas.

2006

We assessed the frequency of genomic deletion of p16 INK4A (CDKN2A) in synovial sarcomas (SSs) and its possible association with immunoexpression of p16 and cyclin D1 and the Ki-67 proliferation index using dualcolor fluorescence in situ hybridization (FISH) on tissue microarray sections of 41 histologically and molecularly confirmed SSs. A heterozygous p16 INK4A gene deletion was identified in 28 (74%) of 38 cases, with 25 (89%) of them showing abnormal p16 protein expression (20 negative and 5 heterogeneous). Of 25 cases, 19 (76%) exhibiting increased cyclin D1 expression also demonstrated heterozygous p16 INK4A deletion. No significant association was observed between p16 INK4A deletion …

Cytogenetics, flow cytometry, cytophotometry and morphometry of 22 cases of primary breast carcinoma. A comparative study.

1992

Cytogenetic, flow cytometric, cytophotometric and morphometric analyses were performed on 22 previously untreated, primary solid breast carcinomas. Although the cell nuclei as the primary object of these studies were the same in all the tumors, distinct features were evaluated in each case to determine to what degree the results obtained by these techniques are comparable. From the cytogenetic viewpoint, six tumors had a modal number in the diploid range, seven were in the triploid range, and two in the tetraploid range; seven tumors had no modal number. These data correlate with the flow cytometry and cytophotometry results obtained, with DNA values slightly higher than their respective ch…

Malignant PEComa With Metastatic Disease at Diagnosis and Resistance to Several Chemotherapy Regimens and Targeted Therapy (m-TOR Inhibitor).

2017

Perivascular epithelioid cell tumors (PEComas) are infrequent neoplasms with peculiar myomelanocytic differentiation. The aggressive abdominopelvic variant is rare, with only a small number of published cases. We present an additional case of this unusual variant, which showed an aggressive histologic and clinical behavior with multiple liver metastases and resistance to several therapies. We also discuss the histological and immunohistochemical profiles as well as the differential diagnosis.

Tumor response assessment by modified Choi criteria in localized high-risk soft tissue sarcoma treated with chemotherapy.

2012

BACKGROUND. The objective of this study was to compare the prognostic relevance of Response Evaluation Criteria in Solid Tumors (RECIST) versus Choi criteria for the assessment of response in patients with high-risk soft tissue sarcoma of the extremities or trunk wall who received preoperative chemotherapy with or without radiotherapy in a phase 3 trial. METHODS. Patients received 3 cycles of preoperative epirubicin þ ifosfamide with or without radiotherapy. The diagnostic concordance between RECIST and Choi criteria and their correlation with overall survival (OS) and freedom from progression (FFP) were evaluated in a univariate Cox regression model. RESULTS. In 243 of 321 eligible patient…

Psammomatous malignant melanoma arising in an intradermal naevus

2001

Psammomatous malignant melanoma arising in an intradermal naevus Aims: A wide variety of differentiation patterns may be found in malignant melanoma. Schwannian features are unusual, and mostly present in the desmoplastic variant. We report the first description of psammoma bodies in malignant melanoma. Methods and results: A malignant melanoma arose in an intradermal naevus of the scalp in a 51-year-old woman, displaying focal neural-like features in the form of rosette-like pseudo-meissnerian alveolar nests, as well as numerous psammoma bodies grouped in a few areas. Tumour cell immunostaining for S100, HMB45, NKI-C3, and vimentin was detected. In addition, both malignant and benign melan…

Angiogenesis in neuroblastoma: relationship to survival and other prognostic factors in a cohort of neuroblastoma patients.

2000

PURPOSE: To study angiogenesis in neuroblastoma, using morphometric and computerized image analysis, and correlate the results with survival and other prognostic factors. PATIENTS AND METHODS: Sixty-nine patients from the Spanish Cooperative Study for Neuroblastoma were studied. Tumoral angiogenesis was studied using an avidin-biotin immunoperoxidase technique with an anti-CD34 antibody. Vascular parameters (VPs) were analyzed by a computerized system. Statistical analysis was also performed. RESULTS: Sixty-six samples had adequate tumoral tissue, and their tumoral vessels were counted. Endothelial cells were more prominent in pure neuroblastomas than in maturing and more mature tumors. VP…

Preclinical xenograft models of human sarcoma show nonrandom loss of aberrations

2011

BACKGROUND: Human tumors transplanted into immunodeficient mice (xenografts) are good preclinical models, and it is important to identify possible systematic changes during establishment and passaging in mice. METHODS: High-resolution microarray-based comparative genomic hybridization (array CGH) was used to investigate how well a series of sarcoma xenografts, including 9 patient/xenograft pairs and 8 early versus late xenograft passage pairs, represented the patient tumor from which they originated. RESULTS: In all analyses, the xenografts were more similar to their tumor of origin than other xenografts of the same type. Most changes in aberration patterns were toward a more normal genome …

Cytogenetic analysis of three primary Bellini duct carcinomas.

1996

Three Bellini duct carcinomas (BDC) of the kidney were cytogenetically analyzed after short-term culture. All three had clonal chromosome abnormalities: 91-92,XXY,-Y, +12, +12, -15, -16, -18, +mar (case 1); 53,XY, +2,t(2;7)(p22;q11), +der (2)t (2;7)(p22;q11), +3, +r(3),add(5)(p15), +7, -8, +12, +17, +r(17), +20, -21 (case 2); and 44-47,X,-Y, +9, +16, -21/46,XY. Some of the numerical abnormalities are shared with papillary renal cell carcinomas (PRCC)(+7, +12, +16, +17, and +20) but not with transitional renal cell carcinomas. The present findings support the previous notion that BDC are different from other types of RCC.

The levels of quinone reductases, superoxide dismutase and glutathione-related enzymatic activities in diethylstilbestrol-induced carcinogenesis in t…

1990

The level of quinone oxidoreductases (microsomal and cytosolic DT-diaphorase, NADPH-cytochrome P450 reductase and NADH-cytochrome b5 reductase), superoxide dismutase and glutathione-related enzymatic activities in diethylstilbestrol (DES)-induced carcinogenesis in kidney from Syrian golden hamsters are presented. Animals that exhibited two different stages of DES-induced carcinogenesis in kidney--pre- and neoplastic lesions and tumorous lesions (after 6 and 8 months of continuous exposure to DES respectively)--were studied in comparison to kidneys from control animals. A dramatic decrease in microsomal and cytosolic DT-diaphorase activities (13.6 and 37.8% of controls), as well as in glutat…

miR-486-5p expression is regulated by DNA methylation in osteosarcoma.

2022

Abstract Background Osteosarcoma is the most common primary malignant tumour of bone occurring in children and young adolescents and is characterised by complex genetic and epigenetic changes. The miRNA miR-486-5p has been shown to be downregulated in osteosarcoma and in cancer in general. Results To investigate if the mir-486 locus is epigenetically regulated, we integrated DNA methylation and miR-486-5p expression data using cohorts of osteosarcoma cell lines and patient samples. A CpG island in the promoter of the ANK1 host gene of mir-486 was shown to be highly methylated in osteosarcoma cell lines as determined by methylation-specific PCR and direct bisulfite sequencing. High methylati…

Oligoastrocitoma con diferenciación en células en anillo de sello. Estudio morfológico, ultraestructural e inmunohistoquímico

2003

Resumen Presentamos un caso de tumor glial mixto (oligoastrocitoma) con celulas en anillo de sello. Esta diferenciacion celular es rara en tumores gliales del sistema nervioso central. En este estudio analizamos las caracteristicas morfologicas, ultraestructurales e inmunohistoquimicas del tumor. Las celulas neoplasicas con caracteristicas morfologicas en anillo de sello mostraban expresion de GFAP, S-100 y vimentina. En la discusion consideramos el diagnostico diferencial con otros tumores primarios del sistema nervioso central, asi como con metastasis cerebrales de neoplasias con diferenciacion en celulas en anillo de sello.

Ultrastructure of vascular neoplasms

1982

Summary The vascular tumors are morphologically recognized by their ability to configurate complete or atypical angiomatous structures. Based on our personal experience of 42 cases of benign and malignant angiomatous tumors, we discussed several aspects of their histogenesis and its morphology when studied with transmission and scanning electron microscopy. Therefore, a survey of the normal histology was developed based not only on normal adult histological structures but also on reparative tissues, as in chronic inflammatory reactions of the gingival mucosa, regenerative tissue of wounds and in chronic osteomyelitis. Supported by morphological arguments, we postulate the existence of sever…

Cutaneous sclerosing Pacinian-like perineurioma

2001

Cutaneous sclerosing Pacinian-like perineurioma Aims: The term perineurioma has been used to designate a variety of clinically and histologically different proliferations of perineurial cells based on immunohistochemical and/or ultrastructural characterization. There are two different groups of neoplasms derived from perineurial cells: extraneural or soft tissue perineuriomas, and intraneural perineuriomas. Recently, a sclerosing variant of cutaneous perineurioma has been described. Methods and results: We report a case of a cutaneous form of perineurioma, combining features of the intraneural and sclerosing varieties, as well as showing a Pacinian pattern of growth. In order to assess the …

Lung Metastases from Esophageal Granular Cell Tumor: An Undoubted Criterion for Malignancy

2017

Chemokine Expression Is Involved in the Vascular Neogenesis of Ewing Sarcoma: A Preliminary Analysis of the Early Stages of Angiogenesis in a Xenogra…

2018

Background Ewing sarcoma (EWS) is the second most common bone cancer in pediatric patients. Angiogenesis is a major factor for tumor growth and metastasis. Our aim was to carry out a histological, immunohistochemical, and molecular characterization of the neovascularization established between xenotransplanted tumors and the host during the initial phases of growth in nude mice in three angiogenesis experiments (ES2, ES3, and ES4). Methods The original human EWS were implanted subcutaneously on the backs of three nude mice. Tumor pieces 3 mm–4 mm in size from early passages of Nu432, Nu495, and Nu471 were also implanted subcutaneously on the backs of three sets (ES2, ES3, and ES4) of athymi…

Translocation (10;11;22)(p14;q24;q12) Characterized by Fluorescence in Situ Hybridization in a Case of Ewing's Tumor

2001

It is well recognized that the identification by classic cytogenetics of t(11;22)(q24;q12) is a useful aid in the accurate diagnosis of Ewing's sarcoma and related tumors. This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction. Recent studies have also used fluorescence in situ hybridization (FISH) to demonstrate the translocation. The authors coupled classic cytogenetics and FISH on tumor cells from the original specimen, the local recurrence, and the pulmonary metastasis as well as from the xenografted tumors in a case of extraosseous Ewing's sarcoma. FISH analysis not only confirmed the cytogenetic results but …

Expresión inmunohistoquímica de la proteína mycN y el estado del gen MYCN en tumores neuroblásticos

2007

Antecedentes: Los tumores neuroblásticos son de los tumores pediátricos más frecuentes. A pesar de su gran variedad genética, clínica e histopatológica, la amplificación del gen MYCN es siempre un indicador de mal pronóstico. Este oncogen codifica una proteína nuclear que se une al ADN y activa la transcripción de sus genes diana. Un aumento en el número de copias del gen no se corresponde siempre con sobreexpresión de su proteína. El valor pronóstico de la detección de la proteína es controvertido. Métodos: Se han analizado 220 muestras de NB. Mediante la técnica de FISH se ha establecido el estado del gen, mientras que la inmunohistoquímica ha permitido el estudio de la expresión de la pr…

Primary omental tumor with ultrastructural features of cellular schwannoma and absence of S-100 antigen reactivity.

1989

Summary We report a primary well-delimited, large mesenchymal omental neoplasm which appeared in a 58 year old man without neurofibromatous traces. The histological and ultrastructural features were consistent with a Schwann cell origin. However, repeated immunohistochemical reactions failed to demonstrate protein S-100 antigen reactivity in the neoplasic cells, the latter only expressing vimentin. The differential diagnosis with hemangiopericytoma is proposed.

Invasión de vasos linfáticos en nevos melanocíticos. Estudio clinicopatológico de ocho casos

2004

Introduccion . La invasion de vasos linfaticos por melanocitos de nevos melanociticos es un hallazgo infrecuente. Por otro lado, la presencia de melanocitos en los ganglios linfaticos se detecta de forma casual en linfadenectomias regionales por carcinomas y melanomas. Metodos . Hemos estudiado 8 casos de nevos melanociticos cutaneos con invasion de vasos linfaticos, analizando sus caracteristicas clinicas e histologicas, asi como la inmunotincion para Ki-67. Resultados . Siete de los 8 casos correspondian a mujeres; cinco fueron diagnosticados como nevos congenitos, observandose en estos ultimos un crecimiento solido melanocitico intravascular con integridad de la superficie endotelial. En…

Diagnostic value of CD34 immunostaining in desmoplastic trichilemmoma.

1998

Desmoplastic trichilemmoma (DT) is a variant of trichilemmoma, characterized by a central prominent desmoplastic component which may simulate invasive carcinoma. We have studied the morphologic and immunohistochemical features of seven cases of DT. Immunohistochemistry was performed on paraffin sections using monoclonal antibodies to CD34 (QBEND/10), vimentin and GCDFP-15. CD34 was also tested in seven cases of basal cell carcinoma (BCC), three with outer root sheath differentiation and four with morphea-form features, and five squamous cell carcinomas. Histologically, features of conventional trichilemmoma were seen at the periphery of the seven lesions. In contrast, at the center, the epi…

Cytogenetic study of angiosarcoma of the breast.

1994

Angiosarcoma of the breast is quite rare, and the development of cutaneous angiosarcoma after segmental mastectomy and radiation therapy is even less common. A cytogenetic analysis of a mammary angiosarcoma arising in a breast after previous irradiation and segmental mastectomy for infiltrating ductal carcinoma revealed multiple clonal rearrangements involving chromosomes X, 1, 2, 3, 4, 5, 6, 7, 8, 9, 15, 17, 20, and 22. No cytogenetically analyzed angiosarcomas of the breast have been reported before. Genes Chromosom Cancer 10:210–212 (1994). © 1994 Wiley-Liss, Inc.

A singular case of near-haploid stemline karyotype in a renal oncocytoma.

1996

Cytogenetic analysis of a human renal oncocytoma revealed a near-haploid chromosome number of 36 with the loss of chromosomes 1, 2, 3, 6, 8, 9, 15, 17, 21, and 22. Review of the literature disclosed that this cytogenetic configuration is extremely rare in solid human tumors and that no renal oncocytomas with near-haploid stemline karyotype have been described. These results are compared with the other published cases of oncocytoma.

Haemangioendothelioma: a current perspective

1995

Gain of MYCN region in a Wilms tumor-derived xenotransplanted cell line.

2010

Wilms tumor is one of the most common pediatric malignant tumors of the kidney. Although the WT1 gene, located at 11p13, has been proven to be implicated in the development of Wilms tumor, other genes such as MYCN are also involved. The purpose of this study is to genetically characterize a Wilms tumor metastasis xenotransplanted in nude mice. Immunogenotype evolution of the xenografts material was monitored for 29 months using molecular techniques, fluorescent in situ hybridization and multiplex ligation-dependent probe amplification, in addition to immunohistochemistry in tissue microarrays. Genetic alterations present in the original tumor and retained in the xenotransplanted tumor were …

The Epithelial Mesenchymal Transition Process in Wilms Tumor

2011

Background Until now, only a few mouse-transplanted human tumors or experimental Wilms tumor (WT) cell lines have been described. The aim of this study was to show the biological behavior, including histology, immunohistochemistry (IHC), and molecular biology, of a WT including the original tumor and metastasis transferred into nude mice and followed for successive generations in xenografts. Methods A WT metastasis was xenotransplanted into nude mice and the mice was monitored for 7 passages over a period of 29 months; the original neoplasm was comparatively studied. The morphology was evaluated by optical and electron microscopy. The protein expression was analyzed by immunohistochemistry …

(Immuno)histological Analysis of Ewing Sarcoma

2020

The diagnosis of Ewing sarcoma requires the integration of the information generated from numerous techniques, some of them being very sophisticated. However, the first steps of the diagnostic process are crucial to achieve the maximum possible diagnostic performance. In this chapter we will review how to handle the diagnostic specimen from its collection, how to prepare it for diagnosis, how to make a complete pathology report, and provide guidance for the reasonable use of immunohistochemical techniques in this malignancy.

Quantification of the heterogeneity of prognostic cellular biomarkers in ewing sarcoma using automated image and random survival forest analysis

2014

Driven by genomic somatic variation, tumour tissues are typically heterogeneous, yet unbiased quantitative methods are rarely used to analyse heterogeneity at the protein level. Motivated by this problem, we developed automated image segmentation of images of multiple biomarkers in Ewing sarcoma to generate distributions of biomarkers between and within tumour cells. We further integrate high dimensional data with patient clinical outcomes utilising random survival forest (RSF) machine learning. Using material from cohorts of genetically diagnosed Ewing sarcoma with EWSR1 chromosomal translocations, confocal images of tissue microarrays were segmented with level sets and watershed algorithm…

Three new chondrosarcoma cell lines: one grade III conventional central chondrosarcoma and two dedifferentiated chondrosarcomas of bone

2012

Abstract Background Chondrosarcoma is the second most common primary sarcoma of bone. High-grade conventional chondrosarcoma and dedifferentiated chondrosarcoma have a poor outcome. In pre-clinical research aiming at the identification of novel treatment targets, the need for representative cell lines and model systems is high, but availability is scarce. Methods We developed and characterized three cell lines, derived from conventional grade III chondrosarcoma (L835), and dedifferentiated chondrosarcoma (L2975 and L3252) of bone. Proliferation and migration were studied and we used COBRA-FISH and array-CGH for karyotyping and genotyping. Immunohistochemistry for p16 and p53 was performed a…

Patterns of differentiation in extraosseous Ewing's sarcoma cells. An in vitro study.

1994

BACKGROUND In vitro, tissue culture-associated differentiation assays have facilitated the identification of multiple tumor-cell types. METHODS We have investigated the capability of differentiation of three extraosseous Ewing's sarcoma cell lines toward a neural and muscular direction by in vitro stimulation with dibutyryl cyclic adenosine-monophosphate (db cAMP) and 5-azacytidine, respectively. RESULTS Elongation of cytoplasmic processes and increase of neural markers chromogranin, S-100 protein, and glial fibrillary acidic protein were observed after db cAMP treatment of these lines and neurosecretory granules as well as myelin figures were demonstrated ultrastructurally. These results s…

Giant-cell tumor of bone, stage II, displaying translocation t(12;19)(q13;q13).

1989

A new case of giant-cell tumour (GCT) of bone with benign histological features, clinical stage II, has been reviewed with immunohistochemistry and electron microscopy. After short-term tissue culture the karyotype, using G-banding techniques, presented a consistent translocation t(12;19)(q13;q13). Nude mice xenografts of the tumour were unsuccessful after 6 months of follow-up. Presence of such chromosomal rearrangement may be related to locally aggressive, histologically benign giant-cell tumors of bone.

Prognostic markers in low-grade papillary urothelial neoplasms of the urinary bladder

2005

Summary Papillary urothelial neoplasms (PUNs) of the urinary bladder comprise a heterogeneous spectrum of ‘continuous' lesions in which the assessment of an accurate histological grade and tumor stage is necessary for an adequate clinical management of patients. Recently, the 1998 World Health Organization/International Society of Urologic Pathologists (WHO/ISUP) Consensus Classification and the 1999 WHO classification proposed a new malignancy grading scheme based mainly on morphometric studies. In accordance with these grading systems, two major categories of PUNs were distinguished: low-grade and high-grade. Concerning the specific subgroup of low-grade tumors two other entities were def…

Ewing’s Sarcoma Family of Tumors

2020

Ewing’s sarcoma family of tumors (ESFT) is a family of small round cell sarcomas with specific molecular alterations showing a spectrum of neuroectodermal differentiation. There is a slightly greater incidence in males than females. The first two decades of life account for 80 % of patients (age at diagnosis ranges from 13 to 19 years), being more uncommon in adults and elderly patients and more frequent in white (Caucasian) people.

Clinicopathological significance of cell cycle regulation markers in a large series of genetically confirmed Ewing's sarcoma family of tumors.

2010

More than 90% of all Ewing's Sarcoma Family of Tumors (ESFT) exhibit specific chromosomal rearrangements between the EWS gene on chromosome 22 and various members of the ETS gene family of transcription factors. The gene fusion type and other secondary genetic alterations, mainly involving cell cycle regulators, have been shown to be of prognostic relevance in ESFT. However, no conclusive results have been reported. We analyzed the clinicopathological significance of relevant cell cycle regulators in genetically confirmed ESFT. A total of 324 cases were analyzed for the immunohistochemical expression of p53, p21(Waf1/Cip1) , p27(Kip1) and Ki67 and the chromosomal alterations of the p53 and …

Behavior of Epithelial Differentiation Antigens (Carcinoembryonic Antigen, Epithelial Membrane Antigen, Keratin and Cytokeratin) in Transitional Cell…

1992

Results of an immunohistochemical study in normal urothelium and transitional cell carcinomas of the bladder are presented. Paraffin-embedded material was confronted with immunoantisera against carcinoembryonic antigen (CEA), keratin (K), cytokeratin (CK) and epithelial membrane antigen (EMA). Immunohistochemical findings confirm the changes in reactivity of dysplastic urothelium and carcinoma in situ for CEA, CK and EMA, in comparison with normal urothelium. Statistically significant differences were also found, depending upon tumor stage, in staining of transitional cell carcinomas for K and CK. Expression of CK correlated with the tumor differentiation grade: normal urothelium and well-d…

Trisomy 12 and translocation (7;9) in an ovarian immature teratoma.

1989

We report a case of an immature malignant ovarian teratoma with peritoneal implants diagnosed in an 18-year-old woman. The tumor was brought into remission after surgery (three laparotomies) and adjuvant chemotherapy. A residual peritoneal implant showed a mature epithelial and glial configuration. Histologically, the neuroectodermal component was dominant in the original tumor as well as in the metastases, being confirmed by immunohistochemistry and electron microscopy. A stem cell line has been obtained with cell culture, having a germ cell character and a yolk sac configuration. This line possessed a trisomy 12 and a translocation (7;9) similar to other chromosomal abnormalities describe…

A polymorphism at the 3'-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuva…

2009

Abstract Background Aromatase (CYP19A1) regulates estrogen biosynthesis. Polymorphisms in CYP19A1 have been related to the pathogenesis of breast cancer (BC). Inhibition of aromatase with letrozole constitutes the best option for treating estrogen-dependent BC in postmenopausal women. We evaluate a series of polymorphisms of CYP19A1 and their effect on response to neoadjuvant letrozole in early BC. Methods We analyzed 95 consecutive postmenopausal women with stage II-III ER/PgR [+] BC treated with neoadjuvant letrozole. Response to treatment was measured by radiology at 4th month by World Health Organization (WHO) criteria. Three polymorphisms of CYP19A1, one in exon 7 (rs700519) and two in…

Complex rearrangement of chromosomes 6 and 11 as the sole anomaly in atypical teratoid/rhabdoid tumors of the central nervous system.

2000

Atypical teratoid/rhabdoid tumor of the central nervous system is a rare childhood tumor with a distinct histologic appearance and an aggressive clinical course. Few tumors have been analyzed cytogenetically. The only consistent chromosomal abnormality identified in some of these tumors has been monosomy or deletions of chromosome 22; in others, a normal chromosome 22 was present. The authors report an atypical teratoid/rhabdoid neoplasm of the central nervous system with a novel complex rearrangement affecting chromosomes 6 and 11 as the sole anomaly. The involvement of region 11p15 could be important in the pathogenesis of this entity.

Endometrial Adenocarcinoma in Syrian Hamsters Treated with Diethylstilbestrol, Tamoxifen and N-Ethyl-Nitrosourea

2006

The synthetic estrogen diethylstilbestrol (DES) causes marked abnormalities in the female hamster genital tract, after either prenatal or postnatal exposure, leading to endometrial hyperplasia and carcinoma. Acting as an initiating event, DES altering uterine development may facilitate the abnormal response of promoting agents. Tamoxifen (TAM) is an antiestrogen that competes for central and peripheral estrogen receptor (ERα). TAM exerts agonistic effects on E-dependent endometrial proliferation. N-ethyl-N-nitrosourea (ENU), a potent mutagenic agent, induces tumors in a variety of organs, predominantly in the peripheral nervous system. To test whether ENU and TAM treatment in a model of hyp…

Radial Scar Versus Tubular Carcinoma of the Breast

1995

Summary The present study is focused on the differential diagnosis between radial scar (RS) and tubular carcinoma (TC) using morphometrical and cytophotometrical analysis (static and flow cytometry) of a number of histologically well-established RS cases, (17 lesions) compared with 6 early infiltrating small TC with sclerotic stroma and pseudo-RS fields. One case displayed both RS and TC foci in contiguity. Mean nuclear area was larger in the group of tubular carcinomas (51.0 μ 2 ) than in the cases o f radial sclerosis (38.30 μ 2 ). We also found a larger number of aneuploid cases in tubular carcinomas measured by image cytometry, but both types o f lesions were diploid when measured by fl…

GIST: Particular aspects related to cell cultures, xenografts, and cytogenetics

2006

In less than half a decade, gastrointestinal stromal tumors (GIST) have emerged from historical anonymity to become a model of kinase-targeted therapies. Approximately 80% to 85% of GISTs harbor activating mutations of the KIT or PDGFRA tyrosine kinase genes, and such mutations have predictive and prognostic value. In this regard, the in vitro and in vivo models have provided valuable tools for understanding the molecular pathology of this interesting neoplasm. This review charts particular aspects in the field of cell cultures and tumor xenografts in nude mice in GIST and their implication in the establishment of appropriate models for discovering and testing therapy. The cytogenetic featu…

Malignant proliferating trichilemmal tumours: an histopathological and immunohistochemical study of three cases with DNA ploidy and morphometric eval…

1998

Aims: Malignant proliferating trichilemmal tumours (MPTT) are rare neoplasms capable of tissue invasion and metastasis, the diagnosis of which is based essentially on histological features. In difficult cases, however, evaluation of additional parameters may be needed to diagnose malignancy. Methods and results We report three cases of MPTT in which, in addition to the histological features, we have determined the DNA ploidy, nuclear area and proliferative fraction. CD34 immunoreactivity has also been tested. Two cases were aneuploid, and one diploid with increased proliferating index. PCNA immunostaining labelled 40% and 80% of tumour cells in aneuploid tumours and 30% of the diploid neopl…

Immunoreactivity using anti-ERG monoclonal antibodies in sarcomas is influenced by clone selection.

2014

The aim of the present study was to explore ERG immunoreactivity in a series of sarcomas, GIST and malignant rhabdoid tumor (MRT), considering the not fully elucidated specificity and sensitivity of this antibody. Paraffin-embedded tissue microarrays from those tumors were stained with anti-ERG against the C-terminus [(EPR3864(2)] and N-terminus (Clone 9FY). EPR3864(2) was positive in almost all angiosarcomas, and MRT.GIST were positive in a large proportion of cases (38.4%), and more than half the synovial sarcomas (52.7%) revealed EPR3864(2) staining. Several chondrosarcomas, osteosarcomas, rhabdomyosarcoma and Ewing's sarcoma family of tumors (ESFT) presented EPR3864(2) expression in a l…

Pautas en el diagnóstico morfológico, inmunohistoquímico y genético de los tumores de células redondas y pequeñas con especial referencia al sarcoma …

2012

Resumen El objetivo del presente trabajo es realizar una revision y actualizacion donde se describe el espectro de hallazgos morfologicos inmunohistoquimicos (IHQ) y geneticos moleculares en los sarcomas de Ewing/PNET (Ewing/PNET) asi como su diagnostico diferencial con otros tumores de celulas redondas y pequenas (TCRP) de hueso y partes blandas. La expresion IHQ de CD99, Fli1, HNK-1 y CAV1, unido a las alteraciones geneticas que muestran estos tumores, apoyan el diagnostico definitivo de esta neoplasia. La expresion de marcadores epiteliales (CK, EMA y/o CEA) en un TCRP no excluye la posibilidad de un Ewing/PNET; sin embargo, la diferenciacion miogenica practicamente excluye la posibilida…

Evaluación de la calidad de los diagnósticos premortem de causas de muerte en las autopsias del Hospital Clínico Universitario de Valencia (1985-1992)

2009

Se estudiaron 998 autopsias realizadas en el Servicio de Anatomía Patológica del Hospital Clínico Universitario de Valencia entre 1985 y 1992, introducidas y procesadas en el Sistema Automatizado de Registro y Control de Anatomía Patológica (SARCAP) en el Hospital «Hermanos Ameijeiras» de La Habana, Cuba. Los principales resultados fueron: predominio del sexo masculino y las edades avanzadas; las principales causas básicas de muerte fueron los tumores malignos, la ateromatosis coronaria, la cirrosis hepática y el SIDA, y las principales causas directas de muerte fueron la bronconeumonía, la extensión del cáncer y el tromboembolismo pulmonar. Hubo 10,6% de discrepancias diagnósticas premorte…

Notch signalling is off and is uncoupled from HES1 expression in Ewing's sarcoma

2010

Notch can act as an oncogene or as a tumour suppressor and thus can either promote or inhibit tumour cell growth. To establish Notch status in Ewing's sarcoma family of tumours (ESFT), we investigated the Notch pathway by gene expression profiling meta-analysis or immunohistochemistry in samples obtained from 96 and 24 ESFT patients, respectively. We found that although Notch receptors were highly expressed, Notch did not appear to be active, as evidenced by the absence of Notch receptors in cell nuclei. In contrast, we show that Notch receptors known to be active in colon adenocarcinoma, hepatocarcinoma, and pancreatic carcinoma stain cell nuclei in these tumours. High expression of the No…

Immunocytochemical typification of mesothelial cells in effusions: in vivo and in vitro models.

1994

We have performed immunocytochemical, immunoelectron microscopy, Western blot, and culture techniques using monoclonal antibodies against cytokeratin, vimentin, and desmin on 17 benign and 20 malignant effusions of pleural and ascitic origin. Triple coexpression of these three antigens was observed in benign reactive mesothelial cells as well as in one case of mesothelioma. All metastatic adenocarcinoma cells were consistently negative to desmin and positive to cytokeratin and vimentin. Present results were helpful to distinguish reactive and malignant mesothelioma from metastatic carcinoma cells in effusions.

Association of loss of 1p and alterations of chromosome 14 in meningioma progression

2004

Meningiomas are usually benign tumors; however, they can recur after surgical resection and occasionally show histologic progression to a higher grade II and III malignancy. The second most frequently reported genetic abnormality after 22q loss is deletion of 1p, although alterations in 9q, 10q, and 14q are also implicated in meningioma progression. Fourteen tumors comprising six benign, four atypical, and four malignant meningiomas were examined by means of cytogenetic and fluorescence in situ hybridization analysis. All tumors showed losses in different regions of 1p, with 1p11, 1p13, 1p21, 1p22, 1p32, and 1q21 breakpoints; eight tumors also presented alterations of chromosome 14. Five of…

Structural Basis of Tumoral Angiogenesis

2003

Mammalian cells require oxygen and nutrients for metabolism and growth. In all cases tissues possess a vascular and lymphatic network assuring the supply of these needs within 200 to 250µm. Multicellular organisms that grow beyond this size require the recruitment of new blood vessels, although some normal tissues are devoid of specific vascularization (cartilage, cornea, epidermis), obtaining their oxygen and metabolic supply through perfusion

Loss of 1p in recurrent meningiomas

2001

Deletion of 1p is associated with histological progression to meningiomas. Detection of this alteration may be a predicting factor for recurrences in this tumor. We present 8 meningiomas from four patients: the original tumor and the first recurrence in one patient, and the first and second recurrences in the other three were studied. We compared results of monosomy 22 and deletion of chromosome 1p with cytogenetic methods and fluorescence in situ hybridization (FISH) analysis obtained from slides of direct preparations, of cultured cells and slides of touch preparations. The cytogenetic study showed normal chromosome 22 and deletion on 1p32 in both samples of one patient; only monosomy 22 …

Short, full-dose neoadjuvant chemotherapy in localized high-risk adult soft tissue sarcomas (STS): An exploratory subgroup analysis on responding pat…

2018

11558Background: We already reported (Cancer 2012;118:5857) the correlation of Choi criteria (Choi) and RECIST with outcome of pts affected by high-risk STS entering a multicentric Italian/Spanish ...

Near-Haploidy in a Malignant Sacrococcygeal Teratoma

1999

Cytogenetic analysis of a malignant sacrococcygeal teratoma in an adult patient revealed near-haploid (77%), near-diploid (19%), and polyploid (4%) cells. The near-haploid cells had a karyotype of 25,XX,der(5)t(5;7)(p15;p13),+7,der(9)t(6;9)(p21;q34),r(17)(p13q25) . In the near-diploid and polyploid cells identical copies of the structural chromosomal changes were found. Although some of the anomalies observed appear unique to this case, a common breakpoint in chromosome 6 was previously reported as specific in a subgroup of extragonadal germ cell tumors of adults.

Low levels of WWOX protein immunoexpression correlate with tumour grade and a less favourable outcome in patients with urinary bladder tumours

2008

Aims:  To correlate the immunohistochemical detection of WWOX with histological measures and disease progression within the whole spectrum of urothelial bladder neoplasms. Methods and results:  One hundred and one patients with primary bladder tumours were retrospectively analysed. Immunohistochemically, a polyclonal antibody was utilized and the level of WWOX protein expression was analysed by using a combined score system based on intensity of the reaction and percentage of immunoreactive tumour cells. WWOX protein expression was consistently expressed in non-neoplastic urothelium, whereas a progressive loss of immunoreactivity was observed as tumour grade and stage increased (P < 0.05). …

Molecular Diagnosis of Ewing Sarcoma Family of Tumors

2009

To compare the sensitivity and specificity of fluorescence in situ hybridization (FISH) with reverse transcription polymerase chain reaction (RT-PCR) in the diagnosis of Ewing sarcoma family of tumors (ESFTs) and other small round-cell tumors (SRCTs) in formalin-fixed paraffin-embedded tissue assembled in tissue microarrays (TMAs). The second objective is to confirm the value of molecular methods and immunohistochemical (IHC) assays, to perform a differential diagnosis between ESFTs and SRCTs with similar or overlapping morphology.A total of 560 cases were selected for the present study out the 806 cases collected from the PROgnosis and THerapeutic Targets in the Ewing's Family of TumorS pr…

Valor de la expresión inmunohistoquímica de CD117 y del estudio molecular de c-KIT y PDGFRα en la redefinición diagnóstica de una serie retrospectiva…

2010

Resumen Los tumores del estroma gastrointestinal (GIST) hasta 1998 fueron catalogados bajo otras designaciones o entidades (leiomioma, leiomioblastoma, o leiomiosarcoma), atendiendo a su apariencia histologica, sin embargo, los avances en la biologia molecular y la inmunohistoquimica en la ultima decada del siglo xx han permitido diferenciarlos y definirlos como una entidad clinica e histopatologica propia. En el trabajo se presenta una serie retrospectiva, de 39 casos diagnosticados dentro del grupo de tumores del musculo liso (entre 1984 y 1998), previo al descubrimiento de CD117 y su posterior reubicacion con la ayuda del marcador anteriormente mencionado y el estudio mutacional de c-KIT…

Biological indicators of prognosis in Ewing's sarcoma: An emerging role for lectin galactoside-binding soluble 3 binding protein (LGALS3BP)

2009

Starting from an experimental model that accounts for the 2 most important adverse processes to successful therapy of Ewing's sarcoma (EWS), chemoresistance and the presence of metastasis at the time of diagnosis, we defined a molecular signature of potential prognostic value. Functional annotation of differentially regulated genes revealed 3 major networks related to cell cycle, cell-to-cell interactions and cellular development. The prognostic impact of 8 genes, representative of these 3 networks, was validated in 56 EWS patients. High mRNA expression levels of HINT1, IFITM2, LGALS3BP, STOML2 and c-MYC were associated with reduced risk to death and lower risk to develop metastasis. At mul…

Scanning electron microscopic evidence for neural differentiation in Ewing's sarcoma cell lines.

1990

A number of recent studies have suggested a relationship between Ewing's sarcoma (ES) and other small round cell tumours of childhood such as peripheral neuroepithelioma (PN). We report scanning electron microscopic studies on the character of induced neural differentiation in ES, neuroblastoma, PN, osteosarcoma and colon carcinoma. We found evidence of neural differentiation in both neural lines and in one of two Ewing's lines before treatment. After differentiation, both Ewing's and neural lines developed neuritic processes with varicosities and little arborization, except for the initially undifferentiated Ewing's line (A4573) which displayed extensive lateral sprouting from neuritic pro…

Prognostic time dependence of deletions affecting codons 557 and/or 558 of KIT gene for relapse-free survival (RFS) in localized GIST: a Spanish Grou…

2010

Background: To assess whether deletions involving codons 557 and/or 558 (critical deletions) of exon 11 of KIT are relevant in the prognosis of relapse-free survival (RFS) in gastrointestinal stromal tumor (GIST) patients with a long follow-up. Patients and methods: A univariate and multivariate analysis for RFS were carried out on 162 localized GIST patients over the entire follow-up period and over the intervals 0-4 years and >4 years. Factors assessed among others were Fletcher/National Institutes of Health and Miettinen-Lasota/Armed Forces Institute of Pathology (M-L/AFIP) risk categories, critical deletions and non-deletion-type mutation (NDTM) within exon 11 of KIT. Results: Multivari…

Immunohistochemical analysis of NKX2.2, ETV4, and BCOR in a large series of genetically confirmed Ewing sarcoma family of tumors

2017

Ewing sarcoma is an aggressive neoplasm of pediatric and adolescent patients. Immunohistochemistry (IHC) can be used to support the morphologic diagnosis of Ewing sarcoma family of tumors (ESFT) in a convincing clinical/radiological context. Although neither NKX2.2 nor CD99 alone are entirely specific, when combined, the diagnostic specificity is high. The aim of the present study was to investigate the IHC expression of NKX2.2, ETV4 and BCOR in a large series of genetically confirmed ESFT. The results for CD99 and CAV-1 immunoreactivity, and the histological and fusion gene subtypes were retrieved from our previous study. NKX2.2 demonstrated moderate or strong nuclear positivity in 91.2% o…

mRNA expression profiles of primary high-grade central osteosarcoma are preserved in cell lines and xenografts

2011

Abstract Background Conventional high-grade osteosarcoma is a primary malignant bone tumor, which is most prevalent in adolescence. Survival rates of osteosarcoma patients have not improved significantly in the last 25 years. Aiming to increase this survival rate, a variety of model systems are used to study osteosarcomagenesis and to test new therapeutic agents. Such model systems are typically generated from an osteosarcoma primary tumor, but undergo many changes due to culturing or interactions with a different host species, which may result in differences in gene expression between primary tumor cells, and tumor cells from the model system. We aimed to investigate whether gene expressio…

Translocation (X;18) in a Biphasic Synovial Sarcoma with Morphologic Features of Neural Differentiation

1998

The authors report a recurred neoplasm showing distinctive histologic, immunophenotypic, and ultrastructural features characteristic of biphasic synovial sarcoma with neural differentiation. The features include areas with a growth pattern of densely packed spindle cells in irregularly intersecting, broad fascicles, diffuse vimentin and HBA 71 immunoreactivity, expression of S-100 protein, and other neural markers. Moreover, areas with glandular structures and cellular expression of cytokeratin and epithelial membrane antigen were noted. Additionally, areas of neural-like growth pattern were positive for neuron-specific enolase, HNK-1, and protein gene product 9.5. Furthermore, cytogenetic …

New type of chimeric fusion product between theEWS andATF1 genes in clear cell sarcoma (malignant melanoma of soft parts)

1998

We report a new case of clear cell sarcoma (CCS) harboring the t(12;22)(q13;q12). Reverse transcription-polymerase chain reaction (RT-PCR) analysis revealed the presence of a chimeric transcript between the EWS and ATF1 genes, both in primary and metastatic tissue. Sequencing studies disclosed an in-frame fusion between EWS gene codon 265 and ATF1 gene codon 110. This breakpoint has not been reported previously and indicates an important in vivo loss of EWS and ATF1 gene domains, which could be associated with the unusually aggressive behavior of this tumor. Genes Chromosomes Cancer 23:358–360, 1998. © 1998 Wiley-Liss, Inc.

Immunohistochemical Expression of Ki-67 Antigen, Cox-2 and Bax/Bcl-2 in Prostate Cancer; Prognostic Value in Biopsies and Radical Prostatectomy Speci…

2005

Abstract Purposes: To elucidate the prognostic value of the immunohistochemical (IHC) expression of Bcl-2, Bax, Cox-2 and Ki-67 antigen in biopsy cores (C) and surgical specimens (SP) of prostate cancer (PC) and to determine the C to SP reproducibility. Material and methods: The IHC study was carried out in 91 patients operated by means of radical prostatectomy (RP) with available formalin-fixed paraffin-embedded material from both C and SP. Results: The IHC expression of Bcl-2 in C and SP was very low (5%). Bax was expressed in almost all the patients and did not show any prognostic value. We observed a good reproducibility between C and SP for all molecules except with Bax. In prostate C,…

Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, “undifferentiated small round cell tumors”. A…

2017

Abstract Background Despite extensive immunohistochemical (IHC) and molecular studies combined with morphologic findings, a group of round/ovoid cell tumors histologically similar to Ewing sarcomas (ES) but lacking EWSR1-rearrangements may remain unclassifiable. Design We retrospectively analyzed 41 Ewing-like tumors (formalin-fixed, paraffin-embedded) previously determined as negative or non-informative for EWSR1-rearrangements by FISH and/or RT-PCR. A new histopathology revision and additional IHC and molecular analyses were carried out in order to investigate whether additional IHC and/or molecular testing in combination with the morphological findings may help in reaching a definitive d…

Homozygous mutations in exon 11 of c-KIT in GIST define a group of high risk patients

2010

Gastrointestinal stromal tumors are the most common mesenchymal neoplasms of the gastrointestinal tract. Gain of function mutations of tyrosine kinase receptors, c-KIT, and PDGFRa have been identified in most GIST; c-KIT exon 11 mutations are the most common. The type of c-KIT or PDGFRa mutation indicates tumor responsiveness to imatinib treatment or progression, although GIST with homozygous mutation has been poorly studied. We analyzed 145 GIST at the immunohistopathologic and genetic levels. Formalin-fixed, paraffin-embedded sections were used for our studies. The histological variables included: mitotic count per 50 HPF, necrosis, pleomorphism, and cell type. The immunophenotype was def…

COX-2 expression in chondrosarcoma: A role for celecoxib treatment?

2010

Chondrosarcomas are resistant to conventional chemo- and radiotherapy. A subset of chondrosarcomas arises secondarily in the benign tumour syndromes enchondromatosis (EC) and multiple osteochondromas (MO), and prevention of tumour development would greatly improve prognosis. We therefore investigated the effect of selective COX-2 inhibition on chondrosarcoma growth. COX-2 expression was studied in central- and peripheral cartilaginous tumours. The effect of COX-2 inhibition was assessed in four high-grade chondrosarcoma cell lines using celecoxib and NS-398 treatment. COX-2 activity (prostaglandin E-2 (PGE(2)) ELISA) and cell viability were measured. The (prophylactic) effect of celecoxib o…

Malignant Peripheral Nerve Sheath Tumor With Osseous Heterologous Differentiation in Uncommon Locations (Heart and Retropharynx)

2016

We report two cases of malignant peripheral nerve sheath tumor (MPNST) in an uncommon location (heart and retropharynx) both with divergent osseous heterologous differentiation. We present the pathological and immunohistochemical studies that confirmed the neurogenic origin. The histopathology of the tumor arising in the retropharynx showed a transition from a neurofibroma to MPNST, making this a new report of an MPNST arising from a plexiform neurofibroma without neurofibromatosis. Primary cardiac MPNST with osseous differentiation has never been reported before. In conclusion, the histology of MPNSTs is very heterogeneous, showing no specific diagnostic immunoprofile or genetic alteration…

Tissue microarrays analysis in chondrosarcomas: light microscopy, immunohistochemistry and xenograft study

2008

Abstract Background Chondrosarcoma (Chs) is the third most frequent primary malignant tumour of bone and can be primary or secondary, the latter results mainly from the malignant transformation of a benign pre-existing tumour. Methods All the cases diagnosed as Chs (primary tumours, recurrences and/or metastasis and xenotransplanted Chs) from the files of our Department were collected. Only cases with paraffin blocks available were selected (Total 32 cases). Six Tissue Microarrays (TMAs) were performed and all the cases and biopsies were distributed into the following groups: a) only paraffin block available from primary and/or metastatic tumours (3 TMAs), b) paraffin block available from p…

Histologic transformation to diffuse large B cell lymphoma with profuse signet-ring cell change in bone marrow and lymph node biopsies in a patient w…

2016

Prognostic Relevance of CCN3 in Bone Sarcomas

2010

Osteosarcomas and Ewing’s sarcoma (EWS) are aggressive malignant bone tumors. In both cases, prognostic markers are lacking. Presently, only clinical features are widely accepted as prognostic indicators. In this study we assessed the prognostic value of CCN3 (Nov), a matricellular protein that belong to the CCN family of regulatory proteins, whose members were shown to play crucial roles in bone formation. In osteosarcomas, CCN3 expression levels represent a useful tool to early identification of patients with different prognosis. In both osteosarcomas and Ewing’s sarcomas, the expression of a full length CCN3 protein was associated to a worse prognostic and a higher risk to developing met…

Short, full-dose adjuvant chemotherapy (CT) in high-risk adult soft tissue sarcomas (STS): long-term follow-up of a randomized clinical trial from th…

2016

[Background] To report on long-term results of a phase 3 trial comparing three versus five cycles of adjuvant chemotherapy (CT) with full-dose epirubicin+ifosfamide in high-risk soft tissue sarcomas (STS).

Specific immunohistochemical identification of Candida albicans in paraffin-embedded tissue with a new monoclonal antibody (1B12).

1995

In invasive candidiasis, the identification of Candida organisms in tissue samples or in normally sterile fluids is essential for an accurate diagnosis. Species identification is an important clue for the source of infection and in epidemiological studies. In this article, the authors have tested the value of a new monoclonal antibody (1B12) to detect C albicans in culture by immunofluorescence, and in tissue samples by immunohistochemistry. MAb 1B12 was found to specifically recognize C albicans , does not cross-react with other Candida species or other structurally similar fungi, and is very sensitive and specific in paraffin-embedded tissue, having no reactivity in normal human tissues o…

Atypical Pleomorphic Extraosseous Ewing Tumor/Peripheral Primitive Neuroectodermal Tumor with Unusual Phenotypic/Genotypic Profile

2002

A pleomorphic undifferentiated tumor primarily located in the retroperitoneum with a phenotype compatible with an extraosseous Ewing tumor/peripheral primitive neuroectodermal tumor (ET/pPNET) pattern and unusual molecular features is described. Immunohistochemically, HBA-71 (CD99/mic2) and several neural markers were intensively expressed together with scattered cells expressing carcinoembryonic antigen (CEA). Short-term culture showed biphasic neuroblastic and epithelioid cell populations, with the latter expressing germ cell markers (CEA, alpha-fetoprotein, and the beta-subunit of chorionic gonadotrophin). Conventional cytogenetics displayed several chromosomic rearrangements, especially…

Evaluation of genetic stability of the SYT gene rearrangement by break-apart FISH in primary and xenotransplanted synovial sarcomas

2006

Synovial sarcomas (SS) are infrequent and morphologically heterogeneous soft tissue sarcomas. The t(X;18)(p11.2;q11.2), which results in fusion of the SYT gene at 18q11 with the SSX1, SSX2, or (rarely) SSX4 gene is a primary genetic event in 90% of SS. To determine whether the t(X;18) present in the original tumor is maintained in its passages, a dual-color break-apart FISH assay for SYT gene disruption was performed in two tissue microarrays (TMA) comprising eight molecularly confirmed primary SSs and their xenografts, which were followed for several generations. A simplified scoring system was applied to the FISH results of the primary and xenotransplanted SS to classify the FISH data int…

Renal Oncocytomas (Typical and Atypical Variants): A Pathologic, Immunohistochemical, Morphometric, and Flow Cytometric Differential Study of 14 Case…

1996

Eight conventional and six atypical oncocytomas in a series of 147 renal neoplasms were studied. Histopathologic findings revealed exclusively oncocytic cells, but cellular polymorphism was higher in the atypical tumors. Atypical oncocytomas presented focal necrosis, transcapsular invasion, or both. Electron microscopy showed similar findings in all cases. Immunohistochemistry of atypical oncocytomas had higher expression against proliferating cell nuclear antigen and more discontinuous immunostaining against laminin than typical ones. Flow cytometry revealed one or two aneuploid peaks in five typical and two atypical cases, although the latter had a higher proliferative fraction than typi…

Molecular and immunohistochemical analysis of the prognostic value of cell-cycle regulators in urothelial neoplasms of the bladder.

2006

Abstract Objective To evaluate the prognostic and predictive value of molecular and immunohistochemical markers related to cell-cycle control in terms of recurrence, progression, and survival in urothelial neoplasms of the bladder (UNB). Patients and Methods Clinical and pathological findings of 84 patients with UNB were assessed. Homozygous deletion (HD) and promoter methylation of p14 ARF , p15 INK4B , p16 INK4A , loss of heterozygosity of the locus 9p21, p53 mutations, and immunohistochemical expression of p53, p16, p14, p21, p27, pRb, Ki67, MDM2, and cyclin D1 proteins were evaluated in relation to overall survival (OS), recurrence-free survival (RFS), and progression-free survival (PFS…

A statistical approach to an individualized prognostic index (IPI) for breast cancer survivability

1983

The authors present 611 and 262 case histories of patients with breast cancer, studied 5 and 10 years after mastectomy, respectively; 27 clinical and 10 histologic parameters were considered for the statistical evaluation, in order to define an Individualized Prognostic Index (IPI) for breast cancer survivability. The probability of survival was estimated by a Bayesian formula using selected prognostic parameters, these parameters were placed in order of discriminant resolution and, for the calculation of the IPI, were selected according to their importance, as it follows: 5 years after surgery: percent affected nodules, dermal infiltration, TNM phase, Scarff-Bloom index and evolutive outbr…

Absence of p53 gene mutations in hepatocarcinomas from a Mediterranean area of Spain

1999

The incidence of p53 gene abnormalities in human hepatocellular carcinoma (HCC) varies in different geographical areas, being higher in regions where hepatitis virus infection and dietary exposure to aflatoxin B1 are the most common aetiological agents. These mutations are less frequently encountered in Europe, although some studies have reported p53 protein overexpression in up to 45% of cases analysed. We have analysed 129 tumour samples of primary malignant hepatic neoplasms recovered from paraffin blocks processed in two pathology laboratories in a Mediterranean area of Spain (Valencia and Gerona). Among 14 cases in which p53 immunohistochemistry expression proved positive, 5 stained in…

The sarculator stratified prognosis of patients with high-risk soft tissue sarcomas (STS) of extremities and trunk wall treated with perioperative ch…

2017

11016 Background: Patients with extremity and trunk wall STS with high malignancy grade and size larger than 5cm are considered at high risk of death, but in fact this risk varies broadly depending on histologic subtype and size. The Sarculator, a nomogram for STS, can improve prognostic assessment of these patients. This tool was evaluated for stratifying risk of distant metastasis (DM) and overall survival (OS) in a RCT investigating perioperative chemotherapy. Methods: High-risk STS patients were randomly assigned to receive either three cycles of preoperative chemotherapy with epirubicin (120 mg/m2) and ifosfamide (9 g/m2) or the same three preoperative cycles followed by two further p…

Molecular analysis of the 9p21 locus and p53 genes in Ewing family tumors.

2001

The EWS-ETS rearrangements, and their respective fusion gene products, are specifically associated with histopathologically Ewing family tumors (EFT). These translocations are implicated in generating malignant transformation of EFT, but the presence of additional genetic alterations must be considered in the pathogenesis of such tumors. We analyzed 26 samples (biopsies and/or nude mice xenotransplants) collected from 19 patients with an EFT to determine whether molecular and cytogenetic alterations of the G(1)/S checkpoint genes are implicated in the pathogenesis of EFT. We found inactivating p53 mutations in three (16%) cases, which correlated with a loss of p21(WAF1/Cip1) expression and …

DNA-Ploidy, Morphometric-Stereological and P-Glycoprotein Study of Superficial Bladder Carcinomas

1992

We carried out a DNA-ploidy, morphometric-stereologic and P-glycoprotein study on 40 newly diagnosed superficial bladder cancer patients (G1-G2), correlating the results with histological grade and clinical outcome. Variations in the number of patients who present recurrences, progression or remain tumor-free during the whole follow-up period (at least 5 years) were not significant when related to nuclear size, proliferative diploid index, presence of aneuploidy and expression of P-glycoprotein. It is striking how the majority of disease-free subjects showed a proliferative diploid index higher than 10%. Moreover, 3 of them presented an aneuploid cell population. In our study, only histolog…

Small round blue cell sarcoma of bone mimicking atypical Ewing's sarcoma with neuroectodermal features. An analysis of five cases with immunohistoche…

1987

Ewing's sarcoma (ES) of bone may occasionally display rosette-like textures mimicking Homer-Wright ones, as seen in neuroectodermic neoplasms (neuroblastoma, peripheral neuroepithelioma). Of a group of 39 cases of ES, reviewed with electron microscopic study, the authors have isolated five atypical ES, which histologically also possessed neuroectodermic traces. These tumors were composed of small round blue cells with rosette-like figures and cytoplasmic glycogen. The immunohistochemical analysis showed positivity for neuron-specific enolase (NSE) as well as for HNK-1 (leu-7) monoclonal antibody. Electron microscopic examination confirmed the tumor cell as being of small round type, with a …

Functional characterization of osteosarcoma cell lines provides representative models to study the human disease

2011

Cancer cell lines represent in vitro models for studying malignancies, general cell biology, drug discovery and more. Whether they can be considered as exact representative models of the parental tumors remains uncertain given the acquisition of additional ex vivo changes of the cells and the lack of tissue architecture and stroma. Previously, within the EuroBoNeT consortium, we characterized a collection of bone sarcoma cell lines on genomic and proteomic level. Here, we address the phenotypical and functional characterization of the unique set of osteosarcoma cell lines (n=19) in vitro and in vivo. For functional analysis of differentiation capacity, cells were stimulated towards osteobla…

823: 3-deazaneplanocin A (DZNep), an inhibitor of histone methyltransferase EZH2, induces apoptosis and reduces cell migration in chondrosarcoma cells

2014

Selective inhibition of HDAC6 regulates expression of the oncogenic driver EWSR1-FLI1 through the EWSR1 promoter in Ewing sarcoma

2021

Ewing sarcoma (EWS) is an aggressive bone and soft tissue tumor of children and young adults in which the principal driver is a fusion gene, EWSR1-FLI1. Although the essential role of EWSR1-FLI1 protein in the regulation of oncogenesis, survival, and tumor progression processes has been described in-depth, little is known about the regulation of chimeric fusion-gene expression. Here, we demonstrate that the active nuclear HDAC6 in EWS modulates the acetylation status of specificity protein 1 (SP1), consequently regulating the SP1/P300 activator complex binding to EWSR1 and EWSR1-FLI1 promoters. Selective inhibition of HDAC6 impairs binding of the activator complex SP1/P300, thereby inducing…

CXCR3 chemokine receptor immunoreactivity in primary cutaneous malignant melanoma: correlation with clinicopathological prognostic factors.

2007

A role for CXCR3, the receptor for chemokines Mig, IP-10 and interferon-inducible T cell alpha-chemoattractant, in tumour cell migration during melanoma progression has been proposed.To analyse CXCR3 expression in primary cutaneous malignant melanomas and its comparison with clinicopathological and prognostic factors.A retrospective immunohistochemical study was carried out on formalin-fixed paraffin-wax-embedded sections from 82 patients with primary invasive cutaneous melanomas, with a monoclonal antibody to CXCR3 (clone 49801.111; RD Systems). Immunoreactivity was semiquantitatively evaluated: labelling intensity (0, absent; 1, weak; 2, moderate; 3, strong) multiplied by the percentage o…

Pulmonary artery sarcoma with angiosarcoma phenotype mimicking pleomorphic malignant fibrous histiocytoma: a case report

2012

Abstract Primary sarcomas of the major blood vessels can be classified based on location in relationship to the wall or by histologic type. Angiosarcomas are malignant neoplasms that arise from the endothelial lining of the blood vessels; those arising in the intimal compartment of pulmonary artery are rare. We report a case of pulmonary artery angiosarcoma in a 36-year old female with pulmonary masses. The patient had no other primary malignant neoplasm, thus excluding a metastatic lesion. Gross examination revealed a thickened right pulmonary artery and a necrotic and hemorrhagic tumor, filling and occluding the vascular lumen. The mass extended distally, within the pulmonary vasculature …

Epithelioid Hemangioma (Angiolymphoid Hyperplasia With Eosinophilia) of the Heart With Peripheral Eosinophilia and Nephrotic Syndrome

2015

Epithelioid hemangioma (EH) is a rare benign vascular lesion, characterized by endothelial cells with epithelioid/histiocytoid appearance. Heart involvement is extremely rare. We present an unusual case of cardiac EH in a young woman with supraventricular arrhythmia, nephrotic syndrome (membranous glomerulopathy), and peripheral eosinophilia after a pregnancy and normal partum resembling Kimura disease. Echocardiogram showed a large tumor mass in the right cardiac ventricle. The cardiac tumor was removed and the histopathology revealed an endothelial proliferation associated with abundant eosinophils. The neoplastic endothelial cells were eosinophilic and polygonal with epithelioid/histioc…

Morphometric and cytophotometric nuclear analysis of altered hepatocyte foci induced by N-nitrosomorpholine (NNM) and aflatoxin B1 (AFB1) in liver of…

1987

The progressive morphological changes in the liver during neoplastic transformation have been studied by histological, cytophotometric and morphometric methods in male Wistar rats treated with two carcinogens: N-nitrosomorpholine (NNM) and aflatoxin B1 (AFB1). Cytophotometric and morphometric analysis of hepatocyte nuclei using Feulgen-stained tissue sections were performed in morphologically normal hepatic parenchyma and in early preneoplastic foci composed of altered hepatocytes. Foci of clear cells, mixed cells and large basophilic cells possessed a ploidy distribution similar to the surrounding non-transformed parenchyma, while the small hyperbasophilic cell foci were predominantly dipl…

Abstract PR10: Inhibition of deacetylase SIRT1 offers a novel treatment option in metastatic Ewing sarcoma

2014

Abstract Metastasis is the major cause of disease-related death in Ewing sarcoma. Patients, who present with clinically overt disseminated disease at diagnosis and those who relapse early with distant metastases have a poor outcome despite multi-modal high-dose chemotherapy. Therefore, new treatment options are highly warranted. Ewing sarcoma pathogenesis is driven by the chimeric ETS oncogene EWS-FLI1. We here describe regulation of sirtuin SIRT1 by EWS-FLI1 and its role in metastasis. SIRT1 belongs to a family of NAD+-dependent group III deacetylases that target histone and non-histone proteins in response to metabolic stress resulting in widespread gene expression changes through epigene…

MYCN gain and MYCN amplification in a stage 4S neuroblastoma.

2003

Abstract Stage 4S neuroblastoma is a disease associated with spontaneous regression and good survival. We present a patient whose evolution has shown the variety and complexity of this disease in infants. Biologic factors, such as ploidy, MYCN copy number, loss of 1p36, and other chromosomal gains and losses were determined. A complex pattern of genetic abnormalities, such as near-diploidy, MYCN gain (2–4 copies per haploid genome) and imbalance/deletion of 1p36 was seen in the diagnostic sample. An extensive disseminated disease after a latent period of 26 months was associated with a special genetic evolution, such as tetraploidy, MYCN amplification (2:100–500 copies), 1p36 deletion, and …

Osteoblastic osteogenic sarcoma in a 13-month-old girl.

1994

Summary Osteosarcoma is exceptional in early periods of life. Therefore osteosarcomas involvingthe bones of the hand are extremely rare. We present a case of an osteogenic sarcoma involving the second metacarpal bone of a 13-month-old girl who has been remaining free of disease, after treatment — radial amputation and chemotherapy pre- and post-operative-, for a period of 10 years in the follow-up.

Histiocitosis de células de Langerhans de partes blandas y hueso con células gigantes multinucleadas y mutación BRAF V600E

2021

Resumen La histiocitosis de celulas de Langerhans (HCL) es una enfermedad heterogenea caracterizada por una proliferacion de celulas de Langerhans y la presencia de la mutacion BRAF en aproximadamente la mitad de los casos. La afectacion osea es comun pero la presencia de grandes masas en partes blandas no es habitual. Reportamos un caso de un paciente pediatrico que comenzo con una gran masa tumoral en hueso iliaco izquierdo con extension a partes blandas adyacentes. La tomografia axial computarizada mostraba una lesion osteolitica con gran extension a partes blandas. Se realizo una biopsia quirurgica por curetaje y el diagnostico histopatologico fue de HCL con positividad intensa para CD1…

Establishment and Characterization of a Continuous Human Chondrosarcoma Cell Line, ch-2879: Comparative Histologic and Genetic Studies with Its Tumor…

2003

Chondrosarcomas are malignant cartilage-forming tumors that represent the second most common malignant solid tumor of bone. These biologically poorly understood neoplasms vary considerably in clinical presentation and biologic behavior. Chemotherapy and radiation therapy are generally ineffective. Here we describe the establishment and characterization of a new human chondrosarcoma cell line named ch-2879, and we compare the cell line with its tumor of origin. The cell line was established from a recurrent grade 3 chondrosarcoma of the chest wall and characterized by growth kinetics and morphologic studies. Immunocytochemistry and RT-PCR were performed to examine the expression of cartilage…

Lysine-specific demethylase 1 (LSD1/KDM1A/AOF2/BHC110) is expressed and is an epigenetic drug target in chondrosarcoma, Ewing's sarcoma, osteosarcoma…

2011

Summary Lysine-specific demethylase 1 (GeneID 23028), a flavin-dependent monoamine oxidoreductase and a histone demethylase, serves as an epigenetic coregulator of transcription. Lysine-specific demethylase 1 is up-regulated in neuroblastoma and in bladder, breast, colorectal, gastric, lung, and neuroendocrine cancers, and its overexpression drives the cell cycle of otherwise nontransformed human cells, suggesting oncogenic properties. Lysine-specific demethylase 1 was recently reported to be also overexpressed in several different mesenchymal tumors. We investigated lysine-specific demethylase 1 expression in over 500 sarcomas by gene expression profiling and tissue microarray-coupled immu…

Evaluation of prognostic factors and their capacity to predict biological behavior in gastrointestinal stromal tumors.

2011

Gastrointestinal stromal tumors (GISTs) are c-KIT-signaling-driven mesenchymal tumors of the human digestive tract, many of which have c-KIT or PDGFRα activating mutations. The authors studied the immunohistochemical markers, c-KIT and PDGFRα mutations, in GISTs and their association with the clinicopathological and clinical follow-up in 145 GISTs. Tumors were located mainly in the stomach, the median tumor size being 7.5 cm. The mitotic index was ≤5 mitoses per 50 high-power fields in 61% of cases, 96% expressed CD117, and c-KIT or PDGFRα mutations were detected in 68% of cases. The median follow-up of the series was 52 months (range = 1 to 244.9 months). Tumor size, cell morphology, mito…

Solitary Fibrous Tumor of the Vulva: Report of 2 Cases, Including a De Novo Dedifferentiated Solitary Fibrous Tumor Diagnosed After Molecular Demonst…

2018

Solitary fibrous tumor (SFT) is a neoplasm of fibroblastic lineage that has been documented in almost every anatomic location. Vulval SFT is very rare with only 10 cases reported to date. We present 2 additional SFTs located in the vulva, in adult women of 59 and 25 yr of age. The first showed a classic morphology and immunophenotype with uniform and strong STAT6 nuclear expression. The other one was a spindle-cell de novo dedifferentiated SFT with heterogeneous nuclear and cytoplasmic STAT6 staining, which could only be correctly diagnosed after molecular analysis with demonstration of a NAB2-STAT6 gene fusion. This genetic aberration is considered to represent the major pathogenic driver …

Expression of chemokine receptor CXCR3, CXCR4, and CXCR7 and their respective ligands in rhabdomyosarcoma

2010

Mutational analysis of E-cadherin, β-catenin and APC genes in synovial sarcomas

2010

Malignant granular cell tumor of soft tissues: a study of two new cases.

2001

We describe 2 cases of malignant granular cell tumor. A marked discrepancy exists concerning the criteria of malignancy of this rare entity, which was diagnosed in male patients aged 41 and 52 years, respectively. They presented with tumors measuring more then 3.5 cm; one arose in the dermis and subcutaneous tissue in the region of the scapula, whereas the other was situated in deeper soft tissue in the pelvis. One case, with previous diagnosis of benign granular cell tumor, presented local recurrence 2 years after the initial diagnosis. The other case presented a fascicular pattern of growth invading adjacent muscular tissue. Both neoplasms were composed of polygonal and spindle cells, sho…

Defining Ewing and Ewing-like small round cell tumors (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A…

2016

Abstract Background Differentiation of Ewing sarcoma family of tumors (ESFT) and Ewing-like tumors remains problematic. Certain ESFT with morphological and immunohistochemical (IHC) profiles lack the EWSR1-ETS transcript. To improve diagnostic accuracy we investigated the presence of several specific transcripts in 200 small round cell tumors (SRCT) displaying ESFT morphology and immunophenotype in which EWSR1 FISH analysis was non-informative or negative. Design 200 tumors (formalin-fixed, paraffin-embedded) were analyzed by RT-PCR. All tumors were tested for EWSR1-ETS , EWSR1 / WT1 , PAX3 / 7-FOX01 or SYT / SSX transcripts, and the negative tumors were subsequently analyzed for CIC / DUX4…

Immunohistochemical study of correlation between histologic subtype and expression of epithelial-mesenchymal transition-related proteins in synovial …

2011

Context.—Synovial sarcomas are mesenchymal tumors with epithelial nature and comprise biphasic and monophasic fibrous subtypes. However, factors determining epithelial or spindle cell differentiation are still unexplored. Aberrant epithelial-mesenchymal transition has been implicated in the pathogenesis of diverse human malignancies.Objective.—To analyze the correlation between cellular phenotype and expression of proteins associated with different epithelial-mesenchymal transition-related pathways.Design.—Immunohistochemical analysis of E-cadherin, Snail, Slug, and dysadherin, components of the Wnt/wingless and PI3K/Akt pathways, was performed on 14 biphasic and 27 monophasic fibrous tumor…

Cytokeratin expression patterns in low-grade papillary urothelial neoplasms of the urinary bladder.

2003

BACKGROUND The differential expression patterns of cytokeratin 20 (CK20) and 34βE12 antigen in low-grade papillary urothelial tumors of the bladder are discussed. METHODS A retrospective study of 120 patients with low-grade papillary bladder tumors (45 neoplasms of low malignant potential and 75 low-grade WHO G1 carcinomas) was performed. All tumors were graded in accordance with the 1998 World Health Organization/International Society of Urological Pathology (WHO/ISUP) and 1999 WHO classifications. The mean follow-up was 76.6 months (range, 36–168 mos), considering for prognostic purposes the time to first recurrence, or relapse-free interval (RFI), and the total number of recurrent patien…

Benign, preinvasive and invasive ductal breast lesions. A comparative study with quantitative techniques: morphometry, image- and flow cytometry.

1999

The histological distinction between ductal hyperplasia of the breast, atypical ductal hyperplasia and ductal carcinoma in situ is difficult and subjective. To gain a better understanding of these lesions, we performed a comparative study comprising 20 cases of ductal hyperplasia without atypia, 20 cases of ductal hyperplasia with atypia, and 30 cases of ductal carcinoma in situ (well-, moderately- and poorly-differentiated), using quantitative techniques: image cytometry analysis, morphometry and DNA analysis, and DNA flow cytometry. Our results confirm that the mean nuclear area and volume progressively decreased from ductal carcinoma in situ to ductal hyperplasia without atypia. The diff…

Hipofisitis granulomatosa idiopática. Estudio morfológico e inmunohistoquímico de una observación

2002

Resumen Los procesos inflamatorios de la glandula hipofisaria constituyen un grupo de interes por su escasa frecuencia. Con frecuencia se presentan como lesiones ocupantes de espacio y cursan con cuadros de panhipopituitarismo. Ello platea problemas de diagnostico diferencial con implicaciones terapeuticas importantes En este trabajo presentamos un caso de hipofisitis granulomatosa idiopatica, en una paciente de 55 anos con crisis diarias de cefalea y panhipopituitarismo y un aumento de tamano de la glandula hipofisaria. La morfologia destaca una lesion inflamatoria granulomatosa no necrotizante, con celulas multinu-cleadas gigantes y un infiltrado linfoplasmocitario. El estudio inmunohisto…

Expression of type I interferon receptor and its relation with other prognostic factors in human neuroblastoma.

1998

Expression of type I interferon receptor (IFN-R) has been found in several normal tissues and in malignant neoplasms, mainly those with epithelial differentiation. In order to analyze the immunohistochemical expression of type I IFN-R we studied 79 cases of neuroblastoma. Results of expression of type I IFN-R were statistically correlated with histopathology, stage, bcl-2 and PCNA expression, N-myc amplification and apoptosis. We found expression of type I IFN-R in 54/79 cases showing statistical correlation with bcl-2 expression (P=0.017) and favourable histopathology (P=0.015). The overexpression found in ganglion cells suggests that IFN-R could be involved in the pathway of neuroblastoma…

Neuroendocrine differentiation in a large series of genetically-confirmed Ewing’s sarcoma family tumor: Does it provide any diagnostic or prognostic …

2021

Given the potential for neuroendocrine differentiation in Ewing's sarcoma family of tumors (ESFT), we aimed to determine neuroendocrine expression in a large series of genetically-confirmed ESFT and its prognostic significance in clinically-localised neoplasms (n = 176). Slides prepared from tissue microarrays were stained for Insulinoma-associated protein 1 (INSM1), CD56, chromogranin-A and synaptophysin. INSM1 expression was present in 59% of ESFT, while synaptophysin, chromogranin-A and CD56 were expressed in only 13%, 8% and 5% of ESFT, respectively. Histological subtypes were only significantly correlated with INSM1 (p = 0.032) or CD56 (p = 0.016) immunoexpression. Regarding prognosis,…

Activity and immunohistochemistry of DT-diaphorase in hamster and human kidney tumours.

1994

We have studied the biochemical and immunohistochemical changes of DT-diaphorase in diethylstilbestrol (DES)-induced hamster kidney tumours and human biopsies from normal kidneys and renal clear cell carcinoma. The activities of primary and secondary antioxidants in these hamster and human tissues are also reported. DT-diaphorase is decreased in the different subcellular fractions of hamster and human tissues. In hamster kidney the activities of the one-electron quinone reductases show a nearly two-fold increase. Immunohistochemical findings confirm the decrease in DT-diaphorase in hamster and human tissues. This image is of special interest in the case of nephroblastoma (Wilms' tumour), si…

Tissue proteomics of the human mammary gland: towards an abridged definition of the molecular phenotypes underlying epithelial normalcy.

2010

Our limited understanding of the biological impact of the whole spectrum of early breast lesions together with a lack of accurate molecular-based risk criteria for the diagnosis and assignment of prognostic significance to biopsy findings presents an important problem in the clinical management of patients harboring precancerous breast lesions. As a result, there is a need to identify biomarkers that can better determine the outcome of early breast lesions by identifying subpopulations of cells in breast premalignant disease that are at high-risk of progression to invasive disease. A first step towards achieving this goal will be to define the molecular phenotypes of the various cell types …

High-risk gastrointestinal stromal tumour (GIST) and synovial sarcoma display similar angiogenic profiles: a nude mice xenograft study

2016

Background: Gastrointestinal stromal tumour (GIST) is the most common primary mesenchymal tumour of the gastrointestinal tract. Spindle cell monophasic synovial sarcoma (SS) can be morphologically similar. Angiogenesis is a major factor for tumour growth and metastasis. Our aim was to compare the angiogenic expression profiles of high-risk GIST and spindle cell monophasic SS by histological, immunohistochemical and molecular characterisation of the neovascularisation established between xenotransplanted tumours and the host during the initial phases of growth in nude mice. Methods: The angiogenic profile of two xenotransplanted human soft-tissue tumours were evaluated in 15 passages in nude…

FU-3 monoclonal antibody: a specific marker for malignant fibrous histiocytoma? An analysis of 32 malignant soft tissue and bone sarcomas.

1994

An immunohistochemical study on frozen sections was carried out on 51 malignant tumours of soft tissue and bone using the FU-3 monoclonal antibody. This antibody is claimed to be specific for malignant fibrous histiocytoma (MFH) and liposarcoma and for normal and tumour cells located in perivascular fields. The results show a lack of specificity in MFH staining: several malignant tumours such as synovial sarcoma, fibrosarcoma, rhabdomyosarcoma, osteogenic sarcoma, and including an anaplastic malignant melanoma, presented positive staining somewhat similar to that found in MFH. The value of this antibody in the differential diagnosis of MFH is doubtful. It might be useful to recognize a comm…

Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB

2008

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ…

2011

Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positi…

3-Deazaneplanocin A (DZNep), an Inhibitor of the Histone Methyltransferase EZH2, Induces Apoptosis and Reduces Cell Migration in Chondrosarcoma Cells

2014

Objective Growing evidences indicate that the histone methyltransferase EZH2 (enhancer of zeste homolog 2) may be an appropriate therapeutic target in some tumors. Indeed, a high expression of EZH2 is correlated with poor prognosis and metastasis in many cancers. In addition, 3-Deazaneplanocin A (DZNep), an S-adenosyl-L homocysteine hydrolase inhibitor which induces EZH2 protein depletion, leads to cell death in several cancers and tumors. The aim of this study was to determine whether an epigenetic therapy targeting EZH2 with DZNep may be also efficient to treat chondrosarcomas. Methods EZH2 expression was determined by immunohistochemistry and western-blot. Chondrosarcoma cell line CH2879…

A tissue microarray study of osteosarcoma: histopathologic and immunohistochemical validation of xenotransplanted tumors as preclinical models.

2010

Osteosarcomas (OS) are aggressive neoplasms with a wide range of morphologic patterns.OS cases (primary and xenotransplanted) with paraffin blocks available were collected and included in tissue microarrays (TMAs). A morphologic evaluation including the different passages in mice was carried out according to the new WHO criteria. In addition, TMAs were analyzed with a wide panel of immunohistochemical (IHC) markers (osteonectin, osteocalcin,cytokeratin, S100, Sox-9, Ki-67, Bcl-2, p53, p16, survivin, CD99, and caveolin-1).A total of 61 cases were collected. The distribution of the cases according to the histopathologic pattern was: 38 osteogenic OS, 8 primary chondrogenic OS, 2 primary telan…

Perfil genómico del neuroblastoma de alto riesgo mediante hibridación genómica comparada

2006

El neuroblastoma presenta alteraciones genéticas que predicen su evolución clínica. Ganancias cromosómicas completas están asociadas a estadios clínicos no avanzados y evolución favorable, mientras que pérdidas de 1p, ganancia de 17q y amplificación del gen MYCN (MNA) son indicativas de estadios clínicos avanzados y pronóstico desfavorable. Son neuroblastomas de alto riesgo (NB-HR) los presentes en niños mayores de un año: estadio 4 o MNA en cualquier estadio de enfermedad, excluyendo estadio 1. El pronóstico de estos enfermos es malo, incluso con tratamientos agresivos. Sólo MNA confiere valor pronóstico negativo. Se remitieron al Centro de Referencia Nacional del neuroblastoma 60 casos de…

Cancer: Clinical Background and Key Challenges

2011

This chapter is aimed at a wide audience ranging from biologists to medical students and cancer specialists. It provides a comprehensive overview of systems approaches to the pathology and treatment of cancer. In particular, it addresses diagnosis and therapy by interconnecting various aspects of cancer at both the molecular and clinical level, and contrasts the unifying features of malignancies with the daunting diversity of cancer types, stages, and evolutionary processes during treatment. The importance is emphasized of both prevention and innovative treatments in reducing the cancer burden, and of early detection as the link between these two major areas. It sets the stage for analysis …

1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

2012

12 páginas, 6 figuras, 1 tabla.-- et al.

The Role of Immunohistochemistry in Rhabdomyosarcoma Diagnosis Using Tissue Microarray Technology and a Xenograft Model

2015

Rhabdomyosarcomas (RMS) may resemble other non-myogenic sarcomas and malignant rhabdoid tumor (MRT). Alveolar rhabdomyosarcoma (ARMS) often harbors a typical translocation, but embryonal rhabdomyosarcoma (ERMS) lacks any specific rearrangement. Histopathology is not always sufficient for an unequivocal diagnosis, necessitating ancillary studies, including immunohistochemistry (IHC). Sixteen genetically tested RMS and two MRT were xenografted and followed in successive passages. Tissue microarrays were constructed including samples from original and xenograft tumors. Desmin, myogenin, CK, EMA, INI1, LSD1, AP2 beta, fibrillin-2, HMGA2, nestin, and SIRT1 were tested using immunohistochemical s…

Unusual Neuroendocrine Differentiation in a Small Round Cell Angiosarcoma: A Potential Histologic Mimicker of Superficial Ewing Sarcoma.

2018

Neuroendocrine differentiation or aberrant expression of neuroendocrine markers is very uncommon in angiosarcomas (AS) and creates a challenging differential diagnosis with other superficial or soft tissue tumors. Herein, we report a new case of superficial AS presenting as a tumor lesion on the little finger of the right hand of a 52-year-old man. The tumor displayed CD56, chromogranin-A, and synaptophysin immunoreactivity. Tumor cells were positive for vascular markers (CD31, FLI1, ERG, D2-40, VE-cadherin, VEGR1,2, and 3), CD99, and EMA, but were negative for S100, CK (AE1/AE3), CK20, polyomavirus, and myogenic (desmin and myogenin) and melanocyte markers (melan-A and HMB45). Ki67 immunos…

The first European interdisciplinary ewing sarcoma research summit.

2012

This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License.-- et al.

15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.

2008

Established histopathological criteria divide invasive breast carcinomas into defined groups. Ductal of no specific type and lobular are the two major subtypes accounting for around 75 and 15% of all cases, respectively. The remaining 10% include rarer types such as tubular, cribriform, mucinous, papillary, medullary, metaplastic, and apocrine breast carcinomas. Molecular profiling technologies, on the other hand, subdivide breast tumors into five subtypes, basal-like, luminal A, luminal B, normal breast tissue-like, and ERBB2-positive, that have different prognostic characteristics. An additional subclass termed "molecular apocrine" has recently been described, but these lesions did not ex…

HER2 amplification in recurrent breast cancer following breast-conserving therapy correlates with distant metastasis and poor survival.

2005

The authors analyzed the HER2 status in early-stage nonrecurrent and recurrent breast cancer groups following breast-conserving treatment. Retrospective analyses of a group of 36 invasive early breast cancer (IBC) patients who developed a local recurrence as a first event and of a random control group of 69 IBC patients were made. HER2 status was assessed by the HercepTest and fluorescence in situ hybridization. The Kaplan-Meier proportional log-rank test was used to study the impact of the biological factors on the metastasis-free interval (MFI) and the overall survival (OS). The Cox proportional hazards model, using stepwise selection was performed to identify the independent predictors o…

Ki-67 immunoexpression and radiological assessment of necrosis improves accuracy of conventional and modified core biopsy systems in predicting the f…

2021

Based on the French Federation Nationale des Centers de Lutte Contre le Cancer (FNCLCC) grading system, this study assesses the accuracy of conventional and modified core biopsy (CB) systems in predicting the final grade (low vs high) assigned to the resected specimen. Substituting Ki-67 immunoexpression for mitotic count, and radiological for histological assessment of necrosis, we used two modified FNCLCC CB grading systems: (1) Ki-67 immunoexpression alone, and (2) Ki-67 plus radiological assessment of necrosis. We graded 199 soft tissue sarcomas (STS) from nine centers, and compared the results for the conventional (obtained from local histopathology reports) and modified CB systems wit…

Ultrastructure of one Ewing's sarcoma of bone with endothelial character and a comparative review of the vessels in 27 cases of typical Ewing's sarco…

1980

An atypical variant of Ewing's sarcoma, located in the left hip of a nine-year-old girl, is discussed at optical, histochemical and electron microscopical level. The endothelial appearing cells seem to play a main role in its histogenesis. Tumoral cells of an undifferentiated blastemic nature show round nuclei and bright lucent cytoplasm, being organized in solid sheets or vascular-like profiles. Alkaline and acid phosphatases are very prominent in all tumoral cells, and some of them also show PAS positive material. Its ultrastructure demonstrates an active pinocytic capacity, cytoplasmic filaments and Weibel-Palade bodies. Simultaneously a review is performed on 27 cases of typical Ewing's…

CD99 Immunoreactivity in Atypical Fibroxanthoma

2002

Atypical fibroxanthoma (AFX), a pleomorphic superficial cutaneous tumor of low-grade malignancy, shares many morphologic features with malignant melanoma (MM) and squamous cell carcinoma (SCC). Absence of S-100, keratin, and desmin immunoreactivity is the clue for this diagnosis. In a search for positive markers, we tested 26 cases of AFX with 2 antibodies: O13 (CD99) and protein gene product 9.5 (PGP9.5). We also included 10 cases of poorly differentiated SCC and 10 cases of MM in the study. In AFX, CD99 immunoreactivity was present in 19 cases (73%), whereas focal PGP9.5 immunoreactivity was found in only 9 cases (35%). None of the SCC cases showed CD99 immunostaining. No CD99 immunoreact…

Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.

2015

Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published. We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh. He had been diagnosed with neurofibromatosis type 1 at age 19 and over the years underwent resection of multiple neural neoplasms, including two malignant peripheral nerve sheath tumors with classical spindle-cell histopathology. The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis…

Desmoplastic melanoma may mimic a cutaneous peripheral nerve sheath tumor: Report of 3 challenging cases

2017

Desmoplastic melanoma (DM) and cutaneous malignant peripheral nerve sheath tumors (MPNST) reveal histological and immunohistochemical similarities, including S100 positivity and negative staining for conventional melanocytic markers. We present 3 cases of cutaneous S100-positive spindle cell tumors in elderly patients, in which first findings led to initial misdiagnoses as cutaneous MPNST and benign peripheral sheath nerve tumor (neurofibroma). The identification of adjacent atypical melanocytic hyperplasia in the overlying skin along with tumor cell proliferation, also in the superficial dermis, the neurotropic component and the absence of any relationship between the tumor and a major ner…

Recombinations of chromosomal bands 10q24, 12q14-q15, and 14q24 in two cases of pulmonary chondroid hamartoma studied by fluorescence in situ hybridi…

2003

Abstract Pulmonary chondroid hamartomas (PCH) are benign mesenchymal tumors consisting of at least two cytogenetic subgroups. These subgroups are defined by chromosomal alterations at either 12q14∼q15 or 6p21. Cytogenetic analysis of short-term cultures from two PCHs revealed two different rearrangements with 12q14∼q15. One of these had a unique translocation t(12;14)(q14∼15;q24) with presence of two normal chromosomes 12 and a der(14), but missing the der(12). The other showed a complex rearrangement between chromosomes 10 and 12 with two different derivatives. Our data have been confirmed with fluorescence in situ hybridization analysis. These cases represent variant forms of the standard…

Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript.

2000

This study describes a new case of Ewing sarcoma (ES)-peripheral primitive neuroectodermal tumor (pPNET) with unusual phenotype and fusion gene structure. The tumor located in the inguinal area of a 15-year-old boy showed a highly aggressive behavior with hematogenous metastases after intensive chemotherapy and bone marrow transplant, causing death 28 months after diagnosis. The tumor displayed a clear cell pattern, and several neuroectodermal markers proved positive both in the original tumor and in xenografts. This neuroectodermal character was confirmed by electron microscopy. Moreover, cytogenetically the tumor has an unusual chromosomal rearrangement, t(2;22)(q13;q22,t(3;18)(p21;q23); …

EWS/FLI-1 rearrangement in small round cell sarcomas of bone and soft tissue detected by reverse transcriptase polymerase chain reaction amplificatio…

1994

Recent cloning of the t(11;22) region has led to the detection of a number of sequences involved in the breakpoints by substituting a sequence which encodes a putative RNA binding domain for that of the DNA binding domain of the human homologue of murine FLI-1. Several tumours display consistent translocation at t(11;22) (q24;q12), a finding that suggests these fusion transcripts could be expressed and detected by reverse transcriptase polymerase chain reaction amplification. To date, only a small number of Ewing's sarcomas (Es) and peripheral neuroectodermal tumours (pPNET) of bone have been tested with this novel molecular biology approach. In this study, we confirmed the presence of the …

Tumor de Wilms con diferenciación muscular. Histología, inmunofenotipo y análisis molecular de tres casos

2012

Resumen El nefroblastoma o tumor de Wilms (WT) es una neoplasia de origen embrionario de histologia trifasica que simula estadios diferentes de la nefrogenesis, y esta constituido tanto por celulas blastemales indiferenciadas como por celulas epiteliales y estromales bien diferenciadas. El predominio de uno de sus componentes en mas de dos terceras partes permite clasificar al WT en blastemal, epitelial, estromal o mixto cuando no hay predominio de uno de ellos. Los tumores con predominio de elementos estromales con un 30% o mas de diferenciacion muscular se reconocen como de variante rabdomioblastica o con diferenciacion muscular. El presente trabajo comunica los hallazgos histologicos, in…

Pleomorphic anaplastic neuroblastoma

2000

Prognostic relevance of CCN3 in Ewing sarcoma

2009

Ewing sarcoma is a highly aggressive malignant bone tumor occurring preferentially in children and young adults. At present, only clinical features, such as patient age, presence of clinically evident metastases at diagnosis, and poor response to neoadjuvant chemotherapy, are widely accepted as prognostic indicators in Ewing sarcoma. In this study, we assessed the prognostic value of CCN3 (Nov), a matricellular protein that play crucial roles in bone formation. Polyclonal antibodies directed against each of the different CCN3 modules were used to identify variant CCN3 proteins in tumors and to draw potential relationships between the expression of these variants and the outcome of patients …

CtIP silencing as a novel mechanism of tamoxifen resistance in breast cancer.

2007

AbstractAcquired resistance to the antiestrogen tamoxifen constitutes a major clinical challenge in breast cancer therapy. However, the mechanisms involved are still poorly understood. Using serial analysis of gene expression, we identified CtIP, a BRCA1- and CtBP-interacting protein, as one of the most significantly down-regulated transcripts in estrogen receptor α–positive (ER+) MCF-7 tamoxifen-resistant breast cancer cells. We further confirmed the association of CtIP down-regulation with tamoxifen resistance in an additional ER+ breast cancer line (T47D), strengthening the relevance of the phenomenon observed. In additional studies, we found CtIP protein expression in a majority of ER+ …

Value of nude mice xenografts in the expression of cell heterogeneity of human sarcomas of bone and soft tissue.

1988

Summary Nude mice xenotransplants have been performed on human primary sarcomas of bone and soft tissues in order to delve into the cell heterogeneity of these neoplasms. Particular emphasis has been given to the group of small round blue cell sarcomas (Ewing's sarcomas and peripheral neuroectodermal tumors). Out of 31 xenotransplanted sarcomas, 16 cases have grown positively, and many of them continue to be transferred into nude mice on a regular time basis, being presently considered as fully established nude lines. Here we report the results of such a system, which has been followed with optical, electron microscopical, immunohistochemical and cytogenetic techniques. Osteosarcomas make u…

P16INK4A and p15INK4B gene alteration associated with oxidative stress in renal cell carcinomas after the chernobyl accident (pilot study).

2002

Our study was undertaken to better understand the role of G1/S transition abnormalities in the malignant progression of renal cell carcinomas (RCCs), exposed to long-term low doses of ionizing radiation (IR), from patients living in radiocontaminated areas of the Ukraine after the Chernobyl accident. We studied p16 and p15 gene alteration in association with oxidative stress markers, including inducible nitric oxide synthase (iNOS) and cyclooxygenase 2 (COX2). We analyzed 88 samples collected from 22 patients with RCCs and with different exposure to IR. Homozygous deletion of the p16 and p15 genes, as well as hypermethylation of the 5CpG island in the promoter region of the same genes, were…

Immunohistochemical Characterization of 130 Cases of Primary Hepatic Carcinomas

1987

Primary liver carcinoma (PLC) may express a certain number of markers. Here we communicate results of an analysis of five such markers (alpha-1-antitrypsin--AAT--, carcino-embryonic antigen --CEA--, alpha-fetoprotein --AFP--, and superficial --HBsAg-- and core --HBcAg-- antigens of hepatitis B virus) by means of PAP techniques in 130 cases of PLC, comparing the neoplastic tissue and the non-tumorous liver. Three variants of PLC are distinguished: hepatocarcinoma (HC) (108 cases); cholangiocarcinoma (CC) (19 cases); and three cases of hepatocholangiocarcinoma (HCC). AAT was positive in 29 HC, 2 HCC, and negative in all 19 CC. CEA appeared positive in 16 HC, 16 CC and only one HCC. AFP was po…

Hyaline globules and papillary fragments in cytologic smears from two intra-abdominal tumors (ovarian and hepatic) in female patients: A diagnostic p…

2016

Hyaline globules and papillary fragments in cytologic samples from two intra-abdominal tumors in young females are presented including the cytological features and the correlation with the histopathologic and immunohistochemical findings. In the first case a cytologic study from an ovarian mass showed papillary structures and isolated tumor cells with epithelioid morphology, irregular reniform-like nuclear contour, pale or vacuolated cytoplasm, abundant hyaline globules and occasional glomeruloid structures resembling Schiller-Duval bodies. Yolk sac tumor (YST) was the diagnosis on the histological slides. Tumor cells showed positivity for cytokeratin (AE1/AE3), epithelial membrane antigen …

Activation of TRK Genes in Ewingʼs Sarcoma Trk A Receptor Expression Linked to Neural Differentiation

1997

Trk receptors have been identified by immunohistochemical methods in primitive neuroectodermal tumor (PNET)/Ewing's sarcoma (ES). However, the presence of different members of the Trk family of receptors in PNET/ES has not been specified. We have examined whether Trk A, B, and C receptors are specifically expressed in ES both with and without features of neural differentiation. Ten ES tumors (five primary tumors of bone and five extraosseous tumors transplanted into nude mice) were investigated for expression of Trk receptors by immunohistochemistry and reverse transcription-polymerase chain reaction. One primary ES and the five grafted ES tumors exhibited signs of neural differentiation; t…

Primary Rhabdomyosarcoma Mimicking a Small Cell Sarcoma of Bone: A Nude Mice Xenograft, Cytogenetic, and Molecular Approach

1998

Small cell sarcomas of bone are difficult to classify and diagnose. The present case deals with such a tumor in which the original biopsy and the resected specimen, studied by histology before chemotherapy, provided no final information about its real nature. Thus several techniques were applied to discern its histogenesis and biology. Myogenin proved positive in isolated cells of the primary neoplasm but was extensively expressed in nude mice xenografts. Electron microscopy confirmed the existence of myofilaments. The cytogenetic analysis revealed a large number of chromo somal abnormalities, but not those found in the Ewing's/PNET (peripheral neuroectodermal tumor) family of tumors. This…

Deregulation of the G1 to S-phase cell cycle checkpoint is involved in the pathogenesis of human osteosarcoma.

2004

Osteosarcoma (OS) displays complex karyotypes with numerical changes as well as structural abnormalities suggesting that several oncogenes and tumor suppressor genes may be implicated in the biology of OS. The aim of our study was to investigate the possible implication of the molecular alterations of the G1 to S-phase checkpoint genes in the pathogenesis of OS. We analyzed samples from 29 patients and found molecular alterations of the RB and TP53 genes in 6 (21%) and 3 (10%) cases, respectively. Homozygous deletion of the INK4A/ARF locus and methylation of INK4A was detected in 3 (10%) and 2 (7%) cases, respectively. CDK4 and MDM2 co-amplification was observed in 1 case (3%). Cyclin D3 is…

Soft tissue myoepithelial carcinoma with rhabdoid-like features andEWSR1rearrangement: Fine needle aspiration cytology with histologic correlation

2015

A new case of soft tissue myoepithelial carcinoma (MEC) with rhabdoid-like differentiation is presented including cytologic, histopathologic, immunohistochemical, and molecular biologic features. A 45-year-old woman was admitted to the Hospital with nodular mass involving the lower part of the abdominal wall. Fine-needle aspiration cytology showed a round cell tumor with abundant cytoplasm in the myxoid background. The nuclei were uniform, round to ovoid, with finely distributed chromatin, nucleoli, and pale, vacuolated, or eosinophilic cytoplasm with rhabdoid-like appearance resembling a soft tissue malignant rhabdoid tumor. The surgically removed tumor was poorly demarcated, yellow, soft,…

Clinicopathological and immunohistochemical analysis of 20 cases of Merkel cell carcinoma in search of prognostic markers.

2005

Aims:  To evaluate the clinicopathological and immunohistochemical characteristics of Merkel cell carcinoma (MCC) in an attempt to find new, potentially significant, prognostic markers. Methods and results:  Clinical data and follow-up, histopathological features (pattern, cell size, thickness, mitoses, vascular invasion, lymphocytic infiltration) and immunohistochemical detection [CK20, thyroid transcription factor (TTF-1), chromogranin A, synaptophysin, p53, Ki67, Fli-1, CD99, c-Kit] were evaluated in 20 cases of MCC. Fli-1 and CD99 were detected in 90% and 55% of cases, respectively. Tumour size > 30 mm, stage II, ‘absent’ lymphocytic infiltration, and the presence of > 50% of Ki67+ tumo…

Analysis of p53 and mdm2 proteins in malignant fibrous histiocytoma in absence of gene alteration: prognostic significance.

2000

TP53 and MDM2 genes and their protein expression were evaluated in frozen and paraffin-embedded tissue from 27 patients with malignant fibrous histiocytoma to elucidate the relationship between them, their implication in tumor progression mechanisms and their possible diagnostic-prognostic value in malignant fibrous histiocytoma. Single-strand conformation polymorphism analysis and direct sequencing of polymerase chain reaction-amplified DNA were used to establish two TP53 mutations (7.4%): a point mutation and a 63-bp duplication. Amplification of the MDM2 gene was observed in two tumors (7.4%) by means of Southern-blot analysis, one of them also carrying the TP53 point mutation. Immunohis…

HMB-45 Immunostaining and Ultrastructure of Melanocytic Hyperplasia in Pigmented Basal Cell Carcinomas

1999

The pigmented variant of basal cell carcinoma (PBCC) may be clinically misinterpreted as malignant melanoma. Histologically this variant is characterized by the presence of functional melanocytes distributed among epithelial tumor cells, particularly in superficial areas. Our finding of a case of PBCC with numerous atypical HMB-45-positive melanocytes prompted us to analyze the morphologic and immunohistochemical features of 20 consecutive cases of PBCC. Four additional cases with numerous large HMB-45-positive melanocytes, also present in the most invasive tumor nests, were found. Ultrastructural examination was performed in two selected cases. Large melanocytes with immature (stages I an…

Bipolar (neural and myoblastic) phenotype in cell lines derived from human germ cell tumours of testis.

1997

Non-seminomatous germ cell tumours of the testis (NSGCT) form a heterogeneous group of neoplasms. Cell lines derived from NSGCT may provide useful data concerning the biology of neoplasic precursor germ cells, differentiation of tumour stem cells and the relationship between various tissue components of these tumours. Four NSGCT were studied, two mixed tumours composed of teratocarcinoma, yolk sac and trophoblastic elements, and two malignant teratomas with a massive neuroectodermal component, equivalent to primary neuroectodermal tumours (PNET) of the testis. The explanted tumours gave rise to various cell populations, including epitheloid cells, flattened large cells, spindle cells and te…

Time trends of human papillomavirus types in invasive cervical cancer, from 1940 to 2007.

2013

Contribution over time of human papillomavirus (HPV) types in human cancers has been poorly documented. Such data is fundamental to measure current HPV vaccines impact in the years to come. We estimated the HPV type-specific distribution in a large international series of invasive cervical cancer (ICC) over 70 years prior to vaccination. Paraffin embedded ICC cases diagnosed between 1940 and 2007 were retrieved from eleven countries in Central-South America, Asia and Europe. Included countries reported to have low-medium cervical cancer screening uptake. Information on age at and year of diagnosis was collected from medical records. After histological confirmation, HPV DNA detection was per…

Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors.

2007

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. The tumors characteristically harbor KIT or PDGFRA mutations, and mutant tumors respond to imatinib mesylate (Glivectrade mark). Chromosomal imbalances resulting in altered gene dosage are known to have a role in the molecular pathogenesis of these tumors, but the target genes remain to be identified. The present study aimed to identify some of these genes. In total, 35 GIST samples were screened for chromosomal imbalances by array-based comparative genomic hybridization. A cDNA array was used to define the minimal common overlapping areas of DNA copy number change. Eight confirmative, …

Ductal Carcinoma In Situ of the Breast: A Comparative Analysis of Histology, Nuclear Area, Ploidy, and Neovascularization Provides Differentiation Be…

2002

Ductal carcinoma in situ (DCIS) is a heterogeneous group of lesions that has been subdivided into three types: well differentiated (grade I), moderately differentiated (grade II), and poorly differentiated (grade III). Forty-five cases of DCIS were analyzed for image analysis: nuclear area, DNA ploidy, and vascularization in order to establish a more precise correlation between the histologic grade and these morphometric parameters. Our results confirm that the mean nuclear area, DNA ploidy, and microvessel density (MVD) progressively increased from DCIS grade I to DCIS grade III. The analysis of the nuclear area in relationship to DCIS grading demonstrated a progressive increase of values …

Human papillomavirus genotype attribution in invasive cervical cancer: a retrospective cross-sectional worldwide study.

2010

Summary Background Knowledge about the distribution of human papillomavirus (HPV) genotypes in invasive cervical cancer is crucial to guide the introduction of prophylactic vaccines. We aimed to provide novel and comprehensive data about the worldwide genotype distribution in patients with invasive cervical cancer. Methods Paraffin-embedded samples of histologically confirmed cases of invasive cervical cancer were collected from 38 countries in Europe, North America, central South America, Africa, Asia, and Oceania. Inclusion criteria were a pathological confirmation of a primary invasive cervical cancer of epithelial origin in the tissue sample selected for analysis of HPV DNA, and informa…

Pigmented esthesioneuroblastoma showing dual differentiation following transplantation in nude mice

1989

Esthesioneuroblastoma (ESTH) is a neuroepithelial-cell-derived neoplasm of the olfactory mucosa composed of homogeneous small round cells which contain neurosecretory granules. Melanin has been detected in such tumours only occasionally. Here we describe a new case of ESTH with divergent differentiation. The primary neoplasm was found in a 67 year-old female, involving the left nasal and maxillary sinus; she died of cerebral metastasis ten months after diagnosis. Histologically only small round cells were seen, with S-100 and NSE positivity. Electron microscopy revealed neurosecretory granules and filaments, as well as the occasional presence of melanosomes. A nude mice xenograft line has b…

Soft tissue Ewing's sarcoma. Characterization in established cultures and xenografts with evidence of a neuroectodermic phenotype.

1990

This study characterizes the histogenesis of soft tissue Ewing’s sarcoma (StEs) based upon an analysis of three tumors. Long-term cultured cell lines and nude mice xenografts were established from original neoplasms or from their metastases. Histologically they revealed a small round cell pattern without signs of differentiation. Several ultrastructural features of neural type were found; the same were also seen on culture cell lines. Moreover, immunohistochemical study for neural markers revealed the presence of HNK-1, NSE, LIRC-LON 36, S-100 protein, glial fibrillary acidic protein, neurofilaments (70 kilodaltons), and chromogranin; some of these markers were present only in the transplan…

The utility of SATB2 immunohistochemical expression in distinguishing between osteosarcomas and their malignant bone tumor mimickers, such as Ewing s…

2016

SATB2 is commonly expressed in osteosarcomas. Although apparently being a valuable diagnostic marker for differentiating between small cell osteosarcoma (SCO) and other small round cell tumors of bone, for instance Ewing sarcoma family of tumors (ESFT), it has not been tested in a large series of ESFT and chondrosarcomas so far. We studied the immunohistochemical expression of SATB2 in 42 osteosarcomas, 31 chondrosarcomas, and 371 genetically confirmed ESFT. SATB2 positivity was detected in 90.4% of osteosarcomas, 87.5% of SCO, 91.3% of osteoblastic osteosarcomas, and in all chondroblastic and parosteal osteosarcomas. The osteoblastic and SCO subtypes expressed SATB2 more intensely than oth…

Heterogeneous lack of expression of the tumour suppressor PTEN protein in human neoplastic tissues.

2001

PTEN, a tumour suppressor gene located at chromosome 10q23 and commonly mutated or deleted in a variety of tumours, encodes a dual-specific/phosphatidylinositol-3,4,5-triphosphate (PIP3) phosphatase. We report the generation of an anti-PTEN monoclonal antibody (MAb) that recognises an epitope at the C-terminus of PTEN, and describe the heterogeneous lack of expression of the PTEN protein in human tumour tissues, as demonstrated by immunohistochemical methods. Our anti-PTEN MAb provides a useful tool for the study of PTEN protein expression in tumour samples, in the search for tumour prognostic molecular markers.

Solitary Fibrous Tumor: Integration of Clinical, Morphologic, Immunohistochemical and Molecular Findings in Risk Stratification and Classification Ma…

2021

Although solitary fibrous tumors (SFTs) have an unpredictable evolution, some specific clinicopathologic factors have been associated with the final outcome. We retrieved clinical, pathological and molecular data of 97 patients with a histological diagnosis of SFT and Signal transducer and activator of transcription 6 (STAT6) positivity. We retrospectively studied the pathological factors predictive of recurrence/metastasis and compared them with the clinical outcome. A wide immunohistochemical study and molecular analysis to detect NAB2/STAT6 gene fusion, tumor protein-53 (TP53) and/or (telomerase reverse transcriptase) TERT promotor mutation were performed. The risk of metastasis was calc…

Models of Biobanking and Tissue Preservation: RNA Quality in Archival Samples in Pathology Laboratories and “In Vivo Biobanking” by Tumor Xenografts …

2011

Tissue banks represent essential resources and platforms for biomedical research serving basic, translational, and clinical research projects. In this article, we describe 2 models of biobanking and tissue preservation with different approaches and aims. Archive tissue biobanking is described here as a resource of residual pathology tissues for translational research, which represents the huge clinical heterogeneity. In this context, managing of tissues and RNA quality in archive tissue are discussed. The other model of tissue biobanking is referred to as xenograft tissue banking, which represents an alternative method for obtaining large amounts of tissue, over an indefinite period, in so …

Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.

2009

Aims:  To analyse the presence of collagen type I alpha 1–platelet-derived growth factor beta (COL1A1–PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. Methods and results:  Multiplex reverse transcriptase-polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 express…

Frequent deletion ofCDKN2Aand recurrent coamplification ofKIT,PDGFRA, andKDRin fibrosarcoma of bone-An array comparative genomic hybridization study

2009

Very little is known about the genetics of fibrosarcoma (FS) of bone. We applied array comparative genomic hybridization (CGH) to identify genes and genomic regions with potential role in the pathogenesis of this tumor. Seventeen patients with FS of bone were included in the study. Array CGH analysis was carried out in 13 fresh frozen tissue specimens from 11 of these patients (nine primary tumors and four local recurrences). DNA was extracted and hybridizations were performed on Agilent 244K CGH oligoarrays. The data were analyzed using Agilent DNA Analytics Software. The number of changes per patient ranged from 0 to 132 (average = 43). Losses were most commonly detected at 6q, 8p, 9p, 10…

Ewing's Sarcoma and Peripheral Primitive Neuroectodermal Tumor of Bone and Soft Tissue

1999

The histological diagnosis of Ewing's sarcoma (Es) continues to be a difficult task for pathologists. A number of new Es varieties has been described, leading to further complexity. Conventional Es, atypical Es, and peripheral neuroectodermal tumor (pPNET), including peripheral neuroepithelioma, belong genetically to the same family of neoplasms, displaying common chromosomal rearrangements and analogous gene reorganizations. The main translocations are t(11;22) and t(21;22), with genes EWS, FLI-1 and ERG being involved, as well as other members of the ETS family of transcription factors. The prevalence of morphology should be maintained with the use of conventional histological techniques…

Cytogenetic findings in malignant mixed mesodermal tumors of the uterus.

1997

Abstract Cytogenetic analyses of four malignant mixed mesodermal tumors (MMMT) of the uterus are reported, of which one was of the homologous type and three of the heterologous type. Karyotypic analyses were obtained in two cases from original tumors and in two cases from tumors xenotransplanted into nude mice. The karyotype of the homologous MMMT was normal in three different passages of a nude mice xenograft line established from the primary tumor. The heterologous tumors showed normal karyotype in one case and hyperdiploid and near triploid range with extensive numerical and structural rearrangements in two cases. Deletion of chromosome 1 at p32, and deletion of chromosome 11 at q13 were…

Endometrial stromal sarcomas: immunohistochemical, electron microscopical and cytogenetic findings in two cases.

1999

Uterine sarcomas are approximately 3% of all malignant uterine corpus tumours. Of these, the tumours that originate solely in the stromal elements of the uterine wall are infrequent and have not been well characterized cytogenetically. We report two cases of endometrial stromal sarcomas (ESS), one low grade and one high grade, diagnosed by conventional histology, immunocytochemistry, electron microscopy and cytogenetics. Morphologically clear-cut differential structures were seen at optical, immunohistochemical, and electron microscopic levels, permitting a clear differential diagnosis. The low-grade ESS expressed hormonal receptors and vimentin, whereas the high-grade ESS showed no hormone…

Patología de los tumores neuroblásticos: evaluación pronóstica. Experiencia del centro español de referencia de la SEOP para estudios biopatológicos …

2007

Resumen Antecedentes Los tumores neuroblasticos son los tumores solidos extracraneales mas frecuentes en la infancia y se caracterizan por una evolucion clinica heterogenea que va desde una progresion rapida a una regresion tumoral espontanea. Existen factores pronosticos conocidos que determinan dicha evolucion como son la edad, estadiaje, histopatologia, estatus de MYCN, ploidia y diversas ganancias y perdidas cromosomicas. El objetivo del trabajo es describir nuestra experiencia como laboratorio de referencia espanol para la determinacion de estos parametros pronosticos. Metodos Material tumoral de pacientes con neuroblastoma, remitido a nuestro laboratorio desde 1992 hasta 2005, ha sido…

Erythrophagocytic tumour cells in melanoma and squamous cell carcinoma of the skin

1997

Aims: Erythrophagocytosis is a characteristic feature of tumour cells in malignant histiocytosis, some leukaemias, lymphomas, and also reactive histiocytes in the haemophagocytic syndrome associated with a variety of infections and neoplasms. It has also been found exceptionally in metastatic malignant epithelial cells in bone marrow and lymph nodes. We present two cases, a cutaneous malignant melanoma and an acantholytic squamous cell carcinoma, in which erythrophagocytosis by tumour cells was demonstrable by both light and electron microscopy. Methods and results: The melanocytic and squamous nature of these cells was supported by the immunohistochemical detection of HMB45, S100, and NKI-…

Analysis of biological prognostic factors using tissue microarrays in neuroblastic tumors

2009

Background Neuroblastic tumors (NT) are pediatric neoplasms with a heterogeneous genetic profile. They present genotypic alterations of prognostic value, the study of which is mandatory in designing therapeutic management. Tissue microarrays (TMA) from paraffin material allow the analysis of a large number of cases with minimal costs. The main purpose of the present study is to analyze specific genetic markers of neuroblastic tumors included in TMAs and determine their prognostic value. We compare the results obtained by different molecular techniques at different substrates to evaluate the feasibility of these assays. Procedure One hundred thirty-nine samples were included in four differen…

Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.

1999

The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).

Additional file 1 of miR-486-5p expression is regulated by DNA methylation in osteosarcoma

2022

Additional file 1: Supplementary Table S1. Overview of TaqMan assays for miRNA and mRNA qRT-PCR experiments. Supplementary Table S2. Primers used for qualitative Methylation-Specific Polymerase Chain Reaction (MSP), bisulfite sequencing (BS) and quantitative Methylation-Specific Polymerase Chain Reaction (qMSP). Supplementary Figure S1. Genomic overview of the mir-486/ANK1 locus. Supplementary Figure S2. Expression of ANK1 transcript variants in untreated and 5-Aza treated osteosarcoma cell lines. Supplementary Figure S3. Methylation level of miR-486 as assessed by methylation specific PCR (MSP).