Search results for "Fibroma"
showing 10 items of 119 documents
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…
Juvenile nasopharyngeal angiofibroma with orbital extension
2015
Abstract Clinical case The case of a 21-year-old male with a history of left proptosis and diplopia of two weeks of onset is presented. The MRI showed an ethmoid-orbital vascular lesion with anterior skull base invasion and orbital extension. Biopsy of the ethmoid confirmed fibrovascular tissue, which supported the diagnosis of angiofibroma. Discussion It is a benign neoplasm with local characteristics of malignancy due to its ability to invade adjacent areas. In this case, the debut presented with manifestations of orbital extension. A broad and multidisciplinary approach is needed in order to improve prognosis.
Management of large dorsal diffuse plexiform neurofibroma
2014
Abstract Neurofibromas are considered one of the hallmark signs of neurofibromatosis type 1(NF1). Diffuse plexiform neurofibroma is a congenital NF1-associated tumor, characterized by overgrowth and interference with function of the affected area. The rich vascular plexus associated with neurofibromas, together with their infiltrative pattern, makes them difficult to eradicate. Complications of neurofibromas are rare but include malignant transformation and potentially lifethreatening hemorrhages. The use of the term “giant” to define a neurofibroma is controversial because there is no clear consensus and descriptions are limited to few case reports. We report a case of a large dorsal diffu…
Angiofibroma nasofaríngeo juvenil con extensión orbitaria
2015
Resumen Caso clinico Varon de 21 anos con historia de exoftalmos izquierdo y diplopia de 2 semanas de evolucion. La resonancia magnetica mostro una lesion muy vascularizada etmoido-orbitaria con invasion de base del craneo anterior y extension orbitaria. La biopsia etmoidal confirmo un tejido fibrovascular compatible con angiofibroma. Discusion El angiofibroma nasofaringeo juvenil (ANJ) es un tumor benigno con caracteristicas locales de malignidad debido a su capacidad de invadir areas adyacentes. En nuestro caso, el comienzo se presenta con manifestaciones de extension orbitaria. Consideramos necesario un conocimiento amplio y un abordaje multidisciplinario con el fin de mejorar el pronost…
Peripheral ossifying fibroma:a 20-year retrospective study with focus on clinical and morphological features
2022
Peripheral Ossifying Fibroma (POF) is a reactive hyperplastic lesion that exclusively occurs in the gingiva and is characterized by the deposition of dystrophic calcification, cementum-like tissue, and immature and mature bone within the connective tissue. The objective of the present study was to perform a retrospective analysis of clinicopathologic features of POF. Clinical and histopathological data were obtained from biopsy records and histopathological reports from a Brazilian reference service in Oral Pathology (1999 - 2020). Morphological analysis was performed to evaluate features related to the mesenchymal component, inflammatory infiltrate, ulceration, and mineralized tissue. A to…
[Bilateral elastofibroma dorsi].
1999
Ein 75 jahriger Patient stellte sich mit seit 2 Jahren langsam grosenprogredienten Raumforderungen unterhalb beider Schulterblatter vor. Anamnestisch bestand ein Zustand nach proximaler Oberarmamputation linksseitig mit folgender prothetischer Versorgung. Klinisch zeigten sich direkt unter den Schulterblattspitzen beidseits 2 faustgrose Tumoren, die fest mit dem tiefer gelegenen Gewebe verwachsen waren. Sowohl magnetresonanztomographisch als auch intraoperativ stellte sich ein infiltratives Wachstum dieser Raumforderungen in die seitliche Thoraxmuskulatur und das Periost der Rippen sowie des Schulterblatts dar, so das ein maligner Tumor vermutet wurde. Histopathologisch zeigte sich Bindegew…
Diagnostic and prognostic value of CD10 in peripheral nerve sheath tumors
2009
Background: Neurofibromas are sporadic or associated with type 1 neurofibromatosis (NF1), with a higher risk of malignant progression. Materials and Methods: We investigated CD10 immunoexpression in 39 peripheral nerve sheath lesions. They were 18 typical, solitary, sporadic neurofibromas (group A) and 21 cases (group B) consisting of 11 NF1-associated cases, 3 malignant peripheral sheath tumors (MPNST) and 8 atypical neurofibromas. Results: CD10 immunopositivity was absent or very weak and focal in group A. On the contrary, CD10 was strongly expressed in group B, including all the MPNST and their metastases, with 95% sensitivity and 72% specificity in distinguishing between the two groups.…
Small bowel gastrointestinal stromal tumor presenting with gastrointestinal bleeding in patient with type 1 Neurofibromatosis: Management and laparos…
2021
Highlights • A multidisciplinary team is mandatory for the correct management of hemorrhagic GIST and its complications. • There is a well-known association between type 1 Neurofibromatosis and GIST. • Type 1 Neurofibromatosis-GIST and sporadic GIST have different behaviour. • In case of localised and resectable GIST surgical treatment is the mainstay. • Laparoscopic approach, if performed correctly, is safe and effective with better short-term outcomes then open surgery.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classifi…
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
2013
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…