Perivascular epitheloid cell tumors (PEComas) are a family of neoplasms with distinctive perivascular epitheloid cells. 36 year old female patient admitted to our clinic with a mass on neck. Biopsy was reported as PEComa. PEComas are very rare, especially in neck region. Here, we present the second case in literature.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645702PMC
http://dx.doi.org/10.1007/s12070-023-03918-8DOI Listing

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BACKGROUND Perivascular epitheloid cell neoplasm (PEComa) is a rare mesenchymal tumor that is evaluated in the same tumor family as angiomyolipoma, sugar cell tumor of the lung, and lymphangioleiomyomatosis. Immunohistochemically, the disease can express melanocytic and myogenic markers, such as HMB45, HMSA1, MelanA/Mart1, and actin. The disease can be seen in almost every organ, especially the uterus and retroperitoneum.

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Perivascular epitheloid cell tumors (PEComas) are a family of neoplasms with distinctive perivascular epitheloid cells. 36 year old female patient admitted to our clinic with a mass on neck. Biopsy was reported as PEComa.

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Background: Perivascular epitheloid cell tumor (PEComas) are characterized by expression of both muscles, most often smooth muscle actin (in ~80% of cases) and melanocytic markers (mainly HMB-45 and Melan A). TFE 3-associated PEComas are new variant which are poorly defined due to their limited reports in literature. These tumors lack response to targeted mTOR inhibitor therapy due to lack of mutation in TSC gene.

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Perivascular epithelioid cell tumors (PEComas) are a group of tumours of mesenchymal origin having a characteristic pathological presence of the epitheloid cell around blood vessels. They are uncommon tumours and hence their exact etiology and pathogenesis remain unclear. They can occur at any part of the body but the common sites of involvement are the gastrointestinal system and the genitourinary system.

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Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals.

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