Malignant perivascular epithelioid cell tumor (PEComa) of cervix with TFE3 gene rearrangement: a case report

Int J Clin Exp Pathol. 2014 Aug 15;7(9):6409-14. eCollection 2014.


In this study, we reported the first PEComa arising within the cervix with TFE3 gene rearrangement and aggressive biological behavior. Morphologically, the tumor showed infiltrative growth into the surrounding parenchyma. The majority of tumor cells were arrayed in sheets, alveolar structures, or nests separated by delicate fibrovascular septa. There was marked intratumoral hemorrhage, necrosis, and stromal calcifications. The tumor cells had abundant clear cytoplasm, focally containing finely granular dark brown pigment, morphologically considered to be melanin. Immunohistochemically, the tumor cells demonstrated moderately (2+) or strongly (3+) positive staining for TFE3, HMB45, and Melan A but negative for CKpan, SMA, S100, PAX8, and PAX2. The presence of Ki-67 protein demonstrated a moderate proliferation rate, with a few Ki-67-positive nuclei. Using a recently developed TFE3 split FISH assay, the presence of TFE3 rearrangement was demonstrated. All these clinicopathologic features are suggestive of TFE3-rearranged PEComas of the cervix. Our results both expand the known characteristics of primary cervix PEComas and add to the data regarding TFE3 rearrangement-associated PEComas.

Keywords: FISH; TFE3; immunohistochemistry; perivascular epithelioid cell tumor; rearrangement; translocation.

Publication types

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

MeSH terms

  • Adult
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • Cell Proliferation
  • Female
  • Gene Rearrangement*
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Lymphatic Metastasis
  • Neoplasm Invasiveness
  • Neoplasm Recurrence, Local
  • Perivascular Epithelioid Cell Neoplasms / chemistry
  • Perivascular Epithelioid Cell Neoplasms / genetics*
  • Perivascular Epithelioid Cell Neoplasms / pathology
  • Perivascular Epithelioid Cell Neoplasms / secondary
  • Perivascular Epithelioid Cell Neoplasms / surgery
  • Phenotype
  • Reoperation
  • Time Factors
  • Treatment Outcome
  • Uterine Cervical Neoplasms / chemistry
  • Uterine Cervical Neoplasms / genetics*
  • Uterine Cervical Neoplasms / pathology
  • Uterine Cervical Neoplasms / surgery


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