Pleiotropic effects of the gene for retinoblastoma

Abstract

Vigorous treatment of retinoblastoma in the last 30 years has resulted in a large population of survivors with useful vision, in which the late effects of genetically associated tumours can be seen. An increase in second primary tumours, mainly osteogenic sarcoma, has been found in those children who carry the germinal mutations, and not in the majority of survivors of unilateral disease. The findings indicate a pleiotropic effect of the retinoblastoma gene which may act as an initiator in two forms of neoplasia.