title: Detection of loss of heterozygosity at chromosome 3p25-26 in primary and metastatic ovarian clear-cell carcinoma: utilization of microdissection and polymerase chain reaction in archival tissues.
abstract: Loss of heterozygosity (LOH) at the 3p region is found in up to 50% of epithelial ovarian neoplasms. The von Hippel-Lindau (VHL) gene at the 3p25 locus is one of the tumor-suppressor genes located at 3p. The role, if any, of the VHL gene locus is not clear in ovarian carcinogenesis. We analyzed primary and metastatic ovarian clear-cell carcinomas (OCCC) for LOH at 3p25 to determine its frequency and its diagnostic utility as an adjunctive tool in the differential diagnosis of metastatic clear-cell carcinomas. Microdissection followed by single-step DNA extraction and polymerase chain reaction (PCR) amplification, using two polymorphic markers flanking the VHL gene locus, was done on archival histology and cytology samples from 9 patients with metastatic OCCC. Of the informative cases, 43% of the metastatic and 50% of the primary OCCC showed LOH. LOH at the VHL gene locus is not uncommon in clear-cell ovarian carcinoma. LOH at 3p25 in cytologic specimens may be a valuable adjunct in the diagnosis of OCCC metastasis in cytologically equivocal cases. OCCC should enter the differential in clear-cell carcinomas of unknown primary that show LOH at 3p25. Published 2001 Wiley-Liss, Inc.
authors.affiliation: Cytopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: A
authors.initials: A
authors.lastname: Simsir
authors.forename: D
authors.initials: D
authors.lastname: Palacios
authors.forename: W M
authors.initials: WM
authors.lastname: Linehan
authors.forename: M J
authors.initials: MJ
authors.lastname: Merino
authors.forename: A
authors.initials: A
authors.lastname: Abati
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics* / Q000473:pathology / Q000556:secondary*; D014408:Biomarkers, Tumor; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003937:Diagnosis, Differential; D004210:Dissection; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics; D006801:Humans; D008025:Ligases; D019656:Loss of Heterozygosity / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology / Q000556:secondary*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D012189:Retrospective Studies; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D014408:Biomarkers, Tumor; D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human