Retinoblastoma: Tumorigenesis

Despite its rarity, retinoblastoma has been at the heart of many of the landmark discoveries that have advanced our understanding of the cellular events in tumorigenesis over the past several decades. The initiating genetic event in most retinoblastoma tumors—biallelic inactivation of the RB1 gene—is well established, and our understanding of the subsequent genetic and epigenetic events that contribute to retinoblastoma progression is evolving. Moreover, events leading to tumor formation in cases of retinoblastoma without identifiable RB1 mutation have been identified. Animal models and the growing field of stem cell research provide opportunities for further investigation, and preclinical trials can critically evaluate novel therapeutic approaches for patients with retinoblastoma.