A case of HMB45-negative perivascular epithelioid cell tumor (PEComa) of the uterine corpus: a possible diagnostic application of molecular-cytogenetic analysis

Eur J Gynaecol Oncol. 2009;30(2):216-9.


We report a case of uterine angiomyolipoma confirmed with molecular-genetic analysis by fluorescence in situ hybridization (FISH). A 25-year-old nulliparous woman visited Yamaguchi University Hospital with a complaint of lower abdominal pain. Magnetic resonance imaging demonstrated an ill-bordered uterine tumor and exploratory laparotomy revealed a myometrial elastic-soft tumor at the anterior wall of the uterine corpus. Histopathologically, the tumor consisted of fascicles of smooth muscle cells with intermingled adipocytes and small to medium-sized arterial blood vessels surrounded by epithelioid cells of clear cytoplasm. FISH examination revealed chromosome X trisomy, which was comparable to a previously reported molecular-genetic finding of PEComa family tumors including angiomyolipoma. Although the tumor was immunohistochemically negative for HMB-45 antigen, the histological and FISH findings were compatible with angiomyolipoma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiomyolipoma / diagnosis
  • Angiomyolipoma / immunology
  • Angiomyolipoma / pathology
  • Antigens, Neoplasm / analysis*
  • Biomarkers, Tumor / analysis*
  • Chromosomes, Human, X / genetics
  • Cytogenetic Analysis
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Melanoma-Specific Antigens
  • Neoplasm Proteins / analysis*
  • Perivascular Epithelioid Cell Neoplasms / diagnosis*
  • Perivascular Epithelioid Cell Neoplasms / immunology
  • Perivascular Epithelioid Cell Neoplasms / pathology
  • Trisomy
  • Uterine Neoplasms / diagnosis*
  • Uterine Neoplasms / immunology
  • Uterine Neoplasms / pathology


  • Antigens, Neoplasm
  • Biomarkers, Tumor
  • Melanoma-Specific Antigens
  • Neoplasm Proteins