Hereditary Retinoblastoma, Lipoma, and Second Primary Cancers

Abstract

Malignant connective tissue tumors, particularly soft-tissue sarcomas and osteosarcomas, are recognized complications of hereditary retinoblastoma ( 1 , 2 ). An apparent high frequency of lipomas, which are benign tumors of adipose tissue, among survivors of retinoblastoma was noted by a patient with hereditary retinoblastoma attending a recent meeting of the New England Retinoblastoma Family Support Group. Because we knew of no published reports of an association between germline mutations in the retinoblastoma (RB1) gene and lipomas, we examined data from a cohort of 898 retinoblastoma survivors, diagnosed at several New York hospitals during the period from 1914 through 1984. The study protocol was approved by the Institutional Review Boards of the National Cancer Institute and Westat, Inc. Written informed consent was obtained from all adult patients; written assent was obtained from juvenile patients, and written informed consent from their parents or guardians. Patients completed questionnaires in 1987–1988 and 1993–1994 about diagnoses and treatments of benign and malignant tumors. Frequencies of lipoma were compared between hereditary and sporadic retinoblastoma survivors.