Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement - a challenging diagnosis of PEComa family of tumors

Pol J Pathol. 2019;70(4):317-322. doi: 10.5114/pjp.2019.93136.

Abstract

We here report a case of a distinct subtype of pigmented/melanocytic malignant PEComa with TFE3-SFPQ(PSF) rearrangement. The tumor involved the iliac region and clinically mimicked metastatic melanoma. The immunohistochemical assessment was supplemented with molecular studies including fluorescence in situ hybridization (FISH) and next-generation sequencing sarcoma panel (NGS). We also discuss the differential diagnosis of intraabdominal PEComas and emphasise the recent molecular reports on the TFE3 rearranged tumors.

Keywords: perivascular epithelioid cell tumors.

Publication types

  • Case Reports

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Biomarkers, Tumor / genetics
  • Gene Rearrangement*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Melanoma / genetics*
  • PTB-Associated Splicing Factor / genetics*
  • Perivascular Epithelioid Cell Neoplasms / genetics*
  • Sarcoma / genetics*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • PTB-Associated Splicing Factor
  • TFE3 protein, human