Melanotic Xp11 translocation renal cancer: A case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts

I. Wei Chang, Hsuan Ying Huang, Ming Tse Sung

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Melanotic Xp11 translocation renal cancer is a recently recognized aggressive epithelioid neoplasm with features overlapping between PEComa, carcinoma, and melanoma. We describe morphologic and immunohistochemical characteristics of a melanotic Xp11 translocation renal cancer occurring in an 18-year-old girl and perform molecular genetic studies to analyze its genetic alterations and related melanogenetic activities. The tumor was composed of solid nests of epithelioid cells bearing abundant clear to finely granular eosinophilic cytoplasm and separated by delicate vascular septa. Finely granular and nonrefractile brown melanin pigments, highlighted by Fontana-Masson stain, were scattered through the tumor. By immunohistochemistry, the tumor was diffusely and strongly labeled by TFE3 and focally stained by HMB45 in a patchy pattern. In contrast, all other applied immunomarkers, including cytokeratins, epithelial membrane antigen, vimentin, CD10, S-100, smooth muscle actin, desmin, c-kit, CD68, and microphthalmia-associated transcription factor, were nonreactive to the tumor. Reverse transcription-polymerase chain reaction and validating sequencing demonstrated PSF-TFE3 gene fusion, a novel exon composition juxtaposing PSF exon 9 to TFE3 exon 5. Up-regulations of melanogenesis-associated regulators, including microphthalmia-associated transcription factor, tyrosinase (TYR), and tyrosinase-related protein 1 (TYRP1), were identified in the tumor by semiquantitative reverse transcription-polymerase chain reaction. The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms.

Original languageEnglish
Pages (from-to)1894-1901
Number of pages8
JournalAmerican Journal of Surgical Pathology
Volume33
Issue number12
DOIs
Publication statusPublished - Dec 1 2009
Externally publishedYes

Fingerprint

Kidney Neoplasms
Gene Fusion
Up-Regulation
Neoplasms
Microphthalmia-Associated Transcription Factor
Exons
Reverse Transcription
Perivascular Epithelioid Cell Neoplasms
Epithelioid Cells
Mucin-1
Polymerase Chain Reaction
Desmin
Monophenol Monooxygenase
Melanins
Polytetrafluoroethylene
Vimentin
Keratins
Renal Cell Carcinoma
Smooth Muscle
Blood Vessels

Keywords

  • Kidney
  • Melanotic
  • MiTF
  • PSF-TFE3 gene fusion
  • Xp11 translocation

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

Cite this

Melanotic Xp11 translocation renal cancer : A case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts. / Chang, I. Wei; Huang, Hsuan Ying; Sung, Ming Tse.

In: American Journal of Surgical Pathology, Vol. 33, No. 12, 01.12.2009, p. 1894-1901.

Research output: Contribution to journalArticle

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abstract = "Melanotic Xp11 translocation renal cancer is a recently recognized aggressive epithelioid neoplasm with features overlapping between PEComa, carcinoma, and melanoma. We describe morphologic and immunohistochemical characteristics of a melanotic Xp11 translocation renal cancer occurring in an 18-year-old girl and perform molecular genetic studies to analyze its genetic alterations and related melanogenetic activities. The tumor was composed of solid nests of epithelioid cells bearing abundant clear to finely granular eosinophilic cytoplasm and separated by delicate vascular septa. Finely granular and nonrefractile brown melanin pigments, highlighted by Fontana-Masson stain, were scattered through the tumor. By immunohistochemistry, the tumor was diffusely and strongly labeled by TFE3 and focally stained by HMB45 in a patchy pattern. In contrast, all other applied immunomarkers, including cytokeratins, epithelial membrane antigen, vimentin, CD10, S-100, smooth muscle actin, desmin, c-kit, CD68, and microphthalmia-associated transcription factor, were nonreactive to the tumor. Reverse transcription-polymerase chain reaction and validating sequencing demonstrated PSF-TFE3 gene fusion, a novel exon composition juxtaposing PSF exon 9 to TFE3 exon 5. Up-regulations of melanogenesis-associated regulators, including microphthalmia-associated transcription factor, tyrosinase (TYR), and tyrosinase-related protein 1 (TYRP1), were identified in the tumor by semiquantitative reverse transcription-polymerase chain reaction. The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms.",
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