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 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. Diagn. Cytopathol. 24:328–332, 2001. Published 2001 Wiley‐Liss, Inc.

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