title: A case of HMB45-negative perivascular epithelioid cell tumor (PEComa) of the uterine corpus: a possible diagnostic application of molecular-cytogenetic analysis.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine, Ube, Japan. yymgt@yamaguchi-u.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Yamagata
authors.forename: S
authors.initials: S
authors.lastname: Kawauchi
authors.forename: H
authors.initials: H
authors.lastname: Tamura
authors.forename: A
authors.initials: A
authors.lastname: Murakami
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: N
authors.initials: N
authors.lastname: Sugino
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000175:diagnosis / Q000276:immunology / Q000473:pathology; D000951:Antigens, Neoplasm / Q000032:analysis*; D014408:Biomarkers, Tumor / Q000032:analysis*; D041321:Chromosomes, Human, X / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins / Q000032:analysis*; D054973:Perivascular Epithelioid Cell Neoplasms / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D014314:Trisomy; D014594:Uterine Neoplasms / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology
chemical_list: D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins