Melanotic Xp11 translocation renal cancers a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma Journal Article


Authors: Argani, P.; Aulmann, S.; Karanjawala, Z.; Fraser, R. B.; Ladanyi, M.; Rodriguez, M. M.
Article Title: Melanotic Xp11 translocation renal cancers a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma
Abstract: We describe 2 cases of malignant melanotic epithelioid renal neoplasms bearing TFE3 gene fusions. Both neoplasms occurred in children (an 11-y-old boy and a 12-y-old girl), and presented with disseminated metastatic disease including mediastinal and mesenteric adenopathy. Both neoplasms featured sheets of epithelioid cells with clear to finely granular eosinophilic cytoplasm set in a branching capillary vasculature. The neoplastic cells contained variable amounts of finely brown pigment confirmed to be melanin by histochemical stains. By immunohistochemistry, the neoplastic cells labeled for melanocytic markers HMB45 and Melan A, but not for S100 protein, MiTF, or any epithelial marker (cytokeratins, epithelial membrane antigen), renal tubular marker (CD10, PAX8, PAX2, RCC Marker) or muscle marker (actin, desmin). Both neoplasms demonstrated nuclear labeling for TFE3 protein by immunohistochemistry, and the presence of TFE3 gene fusions was confirmed by TFE3 fluorescence in situ hybridization analysis. These distinctive neoplasms combine morphologic features of perivascular epithelioid cell neoplasms (PEComas), Xp11 translocation carcinoma, and melanoma. though the phenotype most closely approaches PEComa. These neoplasms represent the first documented examples in which TFE3 gene fusions coexist with melanin production, and their identification raises the possibility that TFE3 gene fusions may underlie an aggressive subset of lesions currently classified as PEComa in young patients.
Keywords: primary tumor; transcription factor; gene fusion; carcinoma; tumor; sugar; pecoma; translocation; soft-part sarcoma; primary malignant-melanoma; clear-cell sarcoma; epithelioid angiomyolipoma; chromosome-translocation; genitourinary tract
Journal Title: American Journal of Surgical Pathology
Volume: 33
Issue: 4
ISSN: 0147-5185
Publisher: Lippincott Williams & Wilkins  
Date Published: 2009-04-01
Start Page: 609
End Page: 619
Language: English
ACCESSION: ISI:000264818800016
PROVIDER: wos
DOI: 10.1097/PAS.0b013e31818fbdff
PUBMED: 19065101
Notes: --- - Article - "Source: Wos"
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  1. Marc Ladanyi
    1328 Ladanyi