Retinoblastoma and Retinoma in a Family

Abstract

Purpose: To report a family of retinoblastoma and retinoma. Methods: A case report. Results: A child inherited bilateral retinoblastoma from his father, who had asymptomatic bilateral retinoma. The child's stepsister had retinoma in one eye and retinoblastoma in the other eye. Molecular genetic analysis of the peripheral blood DNA revealed that the patient and his father had the same germline point mutation (c.1215+1 G＞A) in intron 12 of the RB1 gene. Conclusions: Although retinoma was initially considered a benign variant of retinoblastoma, recent evidence suggests that it is more likely a pre-cancerous lesion of retinoblastoma. The coexistence of retinoma and retinoblastoma in the family described in this report supports the idea that malignant transformation to retinoblastoma occurs after retinoma cells acquire progressive genomic instability involving specific oncogenes and tumor-suppressor genes. The findings suggest that individuals or families with retinoma should be given genetic counseling for the risk assessment of retinoblastoma.