Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features

Virchows Arch. 2014 Nov;465(5):607-13. doi: 10.1007/s00428-014-1655-x. Epub 2014 Sep 20.

Abstract

Perivascular epithelioid cell tumors (PEComas) have been increasingly associated with gene rearrangement of the transcription factor E3 (TFE3). We present three cases of PEComa with a TFE3 gene abnormality detected by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Their clinical features, pathological morphology, and prognosis were investigated. Histologically, the tumors in these three cases showed predominantly epithelioid cells arranged in nests or sheets separated by a delicate vascular network, within two of the three cases nuclear atypia, mitotic figures, and necrosis. All three cases showed strong TFE3 and cathepsin K immunoreactivity and weak to strong reactivity for HMB45. One case of PEComa with TFE3 gene fusion exhibited a benign course. The other two cases of PEComa with both TFE3 translocation and X-chromosome polysomy were histologically malignant and showed aggressive growth. In summary, unusual cases of PEComa with TFE3 gene rearrangement might present malignant histological features and aggressive clinical behavior. Our results add cases to the literature and describe an association of polysomy with aggressive behavior.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Biomarkers, Tumor / metabolism
  • Fatal Outcome
  • Female
  • Gene Rearrangement*
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Middle Aged
  • Perivascular Epithelioid Cell Neoplasms / genetics
  • Perivascular Epithelioid Cell Neoplasms / pathology*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • TFE3 protein, human