TFE3-Expressing Epithelioid Rich Perivascular Epithelioid Cell Neoplasm (PEComa) of the Bladder with Unusual Benign Course

Ann Clin Lab Sci. 2018 Jan;48(1):110-115.


Perivascular epithelioid cell tumor (PEComa) is an uncommon tumor which presents with epithelioid and spindled cell morphology and is immunoreactive for myogenic and melanocytic markers. Recently, a subset of PEComas has been reported to harbor TFE3 gene rearrangement.In this case report, we describe a TFE3-expressing primary bladder PEComa in a 27-year-old male patient with acute myeloid leukaemia in remission. The tumor displayed epithelioid morphology with surrounding delicate blood vessels and was devoid of a prominent spindle cell component. Malignant features were not identified. The tumor expressed HMB45, CD117, and focal patchy positive expression for SMA. TFE3 gene translocation was confirmed by Fluorescence in-situ hybridization. RT-PCR assay confirmed the presence of SFPQ-TFE3 gene fusion.In contrast to previously reported aggressive TFE3 gene-rearranged bladder PEComa cases, our case shows benign histologic and clinical features. Current clinical follow-up also shows a benign course.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Gene Rearrangement*
  • Humans
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • PTB-Associated Splicing Factor / genetics
  • Perivascular Epithelioid Cell Neoplasms / genetics*
  • Perivascular Epithelioid Cell Neoplasms / pathology*
  • Prognosis
  • Receptor, trkC / genetics
  • Spectrin / genetics
  • Translocation, Genetic*
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology*


  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Oncogene Proteins, Fusion
  • PTB-Associated Splicing Factor
  • SPTB protein, human
  • TFE3 protein, human
  • Spectrin
  • Receptor, trkC