Retinoblastoma gene mutations in primary human prostate cancer

Structural alterations in the entire coding regions (exons 1 to 27) of the retinoblastoma (RE) gene in primary human prostate cancers were investigated, using polymerase chain reaction and single strand conformational polymorphism analysis of RNA. Of 25 samples obtained from patients, four (16.4%) were found to have RE alterations. DNA sequencing of the PCR products revealed point mutations resulting in single amino-acid substitutions of exons 6 and 19 in two cases, and base deletions of exons 8 and 17 in two cases. Two of four cases with RE mutations were moderately differentiated localized tumors and other two with RE mutations were poorly differentiated tumors with metastases. Our results suggest that RE gene mutation is involved in progression steps of prostate carcinogenesis. (C) 1995 Wiley-Liss, Inc.