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

Loss of heterozygosity (LOH) at the 3p region is Sound in lip to 50% of epi thelial ovarian neoplasms. The von Hippel-Lindau (VHL) gene at the 3p25 loc us is one of the 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 3p2 5 to determine its frequency and its diagnostic utility as an adjunctive to ol in rite differential diagnosis of metastatic clear-cell carcinomas. Micr odissection followed by single-step DNA extraction and polymerase chain rea ction (PCR) amplification, using two polymorphic markers flanking the VHL g ene locus, was done on archival histology and cytology samples from 9 patie nts with metastatic OCCC. Of the informative cases, 43% of the metastatic a nd 50% of the primary OCCC showed LOH. LOH at the VHL gene locus is not unc ommon in clear-cell ovarian carcinoma. LOH at 3p25 in cytologic specimens m ay be a valuable adjunct in the diagnosis of OCCC metastasis in cytological ly equivocal cases. OCCC should enter rite differential in clear-cell carci nomas of unknown primary that show LOH at 3p25. Published 2001 Wiley-Liss, Inc.