Search results for "sarcomas"
showing 10 items of 17 documents
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 …
PML expression in soft tissue sarcoma: Prognostic and predictive value in alkylating agents/antracycline-based first line therapy
2012
Soft tissue sarcomas are aggressive tumors representing <1% of all adult neoplasms. Aim of our study was to evaluate promyelocytic leukemia gene expression value as prognostic factor and as a factor predicting response to alkylating agents/antracycline-based first line therapy. One hundred eleven patients affected by locally advanced and metastatic soft tissue sarcoma were selected. PML expression was evaluated by immunohistochemical analysis in pathological samples and in the corresponding normal tissue from each case. PML immunohistochemical results were correlated with prognosis and with radiological response to alkylating agents/antracycline-based first line therapy. PML expression was …
Retroperitoneale Sarkome: Diagnostik und Therapie
2006
Background Due to the fact that there are no distinct anatomical compartments, retroperitoneal sarcomas are moreover diagnosed with evidence of large tumors and infiltration of adjacent organs. In spite of improvement of the diagnostic facilities and surgical techniques, quite frequently local recurrences with unfavourable prognosis turn up even after complete removal. It was the aim of this study to analyze diagnosis, therapy and long-term prognosis in patients with retroperitoneal sarcomas over a period of 10 years. Patients and methods Between January 1995 and January 2005, 379 patients underwent surgery for a primary retroperitoneal tumor at our clinic. Among the 67 (17.1 %) malignant l…
Childhood soft tissue sarcomas incidence and survival in European children (1978-1997): Report from the Automated Childhood Cancer Information System…
2006
This population-based study is based on 5802 cases of soft tissue sarcomas (STS) in children aged 0-14 years extracted from the database of the Automated Childhood Cancer Information System (ACCIS) and registered in population-based cancer registries in Europe for the period 1978-1997. STS represent almost 8% of neoplasms in children, almost half of whom are less than 5 years at diagnosis. Rhabdomyosarcoma is the most frequent childhood STS (50%). During 1988-1997 the age-standardised incidence of STS in Europe was 9.1 per million children, lowest in the West and East and highest in the North. The incidence of STS increased almost 2% per year over the period 1978-1997, attributable mostly t…
Occupational factors and risk of adult bone sarcomas:a multicentric case-control study in Europe
2006
International audience; We investigated the association between occupational factors and risk of bone sarcoma, a rare tumor with a largely unknown aetiology. A multicentric case-control study was conducted in 7 European countries in 1995-97. Ninety-six cases aged 35-69 years with a centrally reviewed diagnosis of bone sarcoma (68 chondrosarcomas and 28 osteosarcomas) were compared to 2,632 population (68%) or colon cancer (32%) controls. Subjects were interviewed to obtain information on occupational, medical and reproductive history, smoking and alcohol consumption and selected exposures including use of pesticides. Response proportions were 90% among cases and 66% among controls. Odds rat…
PML down-regulation in soft tissue sarcomas
2010
To date, little is known concerning the promyelocytic leukemia gene (PML) status in tumors of different origin, and its expression has never been evaluated in soft tissue sarcoma. The aim of the present study is focused on the identification of differences in terms of PML protein expression between different types of soft tissue sarcoma and the corresponding normal surrounding tissue. PML protein expression has been assessed by immunohistochemistry in six different histologic types of soft tissue sarcoma (synovial sarcoma, myofibroblastic sarcoma, angiosarcoma, liposarcoma, pleomorphic sarcoma, and leiomyosarcoma) and in the corresponding normal surrounding tissue. PML resulted significantl…
Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas
2021
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas…
Target Therapies for Uterine Carcinosarcomas: Current Evidence and Future Perspectives
2017
Carcinosarcomas (CS) in gynecology are very infrequent and represent only 2–5% of uterine cancers. Despite surgical cytoreduction and subsequent chemotherapy being the primary treatment for uterine CS, the overall five-year survival rate is 30 ± 9% and recurrence is extremely common (50–80%). Due to the poor prognosis of CS, new strategies have been developed in the last few decades, targeting known dysfunctional molecular pathways for immunotherapy. In this paper, we aimed to gather the available evidence on the latest therapies for the treatment of CS. We performed a systematic review using the terms “uterine carcinosarcoma”, “uterine Malignant Mixed Müllerian Tumors”, “target therapies”,…
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…
Receptor Activator of NF-kB (RANK) Expression in Primary Tumors Associates with Bone Metastasis Occurrence in Breast Cancer Patients
2011
Background\ud Receptor activator of NFkB (RANK), its ligand (RANKL) and the decoy receptor of RANKL (osteoprotegerin, OPG) play a pivotal role in bone remodeling by regulating osteoclasts formation and activity. RANKL stimulates migration of RANK-expressing tumor cells in vitro, conversely inhibited by OPG.\ud \ud Materials and Methods\ud We examined mRNA expression levels of RANKL/RANK/OPG in a publicly available microarray dataset of 295 primary breast cancer patients. We next analyzed RANK expression by immunohistochemistry in an independent series of 93 primary breast cancer specimens and investigated a possible association with clinicopathological parameters, bone recurrence and surviv…