Melanotic Xp11 translocation renal cancers: A distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma

Pedram Argani, Sebastian Aulmann, Zarir Karanjawala, Robert B. Fraser, Marc Ladanyi, Maria Rodriguez

Research output: Contribution to journalArticle

97 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)609-619
Number of pages11
JournalAmerican Journal of Surgical Pathology
Volume33
Issue number4
DOIs
StatePublished - Apr 1 2009
Externally publishedYes

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Perivascular Epithelioid Cell Neoplasms
Kidney Neoplasms
Gene Fusion
Melanoma
Carcinoma
Melanins
Neoplasms
Mediastinal Diseases
Immunohistochemistry
MART-1 Antigen
Epithelioid Cells
Mucin-1
Desmin
S100 Proteins
Keratins
Fluorescence In Situ Hybridization
Actins
Cytoplasm
Coloring Agents
Phenotype

Keywords

  • Carcinoma
  • PEComa
  • Translocation

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery
  • Medicine(all)

Cite this

Melanotic Xp11 translocation renal cancers : A distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. / Argani, Pedram; Aulmann, Sebastian; Karanjawala, Zarir; Fraser, Robert B.; Ladanyi, Marc; Rodriguez, Maria.

In: American Journal of Surgical Pathology, Vol. 33, No. 4, 01.04.2009, p. 609-619.

Research output: Contribution to journalArticle

Argani, Pedram ; Aulmann, Sebastian ; Karanjawala, Zarir ; Fraser, Robert B. ; Ladanyi, Marc ; Rodriguez, Maria. / Melanotic Xp11 translocation renal cancers : A distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. In: American Journal of Surgical Pathology. 2009 ; Vol. 33, No. 4. pp. 609-619.
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