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Genetics of retinoblastoma

Retinoblastoma is the most common intraocular malignant tumor in childhood. Approximately 45% of retinoblastoma patients have germline abnormalities. Screening for a constitutional RB1 mutation has become an integral part of the current management of the families of patients with retinoblastoma. Optimization of RB1 mutation detection has decreased test costs and turnaround time, and has increased the likelihood of clinical implementation. This article reviews the different types of mutations and analyzes the genotype–phenotype relationship demonstrating the complexity and the genetic diversity of retinoblastoma. A reminder is given that hereditary retinoblastoma constitutes a cancer predisposition syndrome in children carrying a constitutional RB1 gene mutation. New insights on the genomic changes in the development of retinoblastoma are also discussed, as well as future potential clinical applications and new therapeutic targets.