Retinoblastoma: from Mechanisms of Tumorigenesis to Cancer Modeling

RB (retinoblastoma) is a rare retinal tumor that is often diagnosed in the first a few years of life, accounting for 2%-4% of childhood malignancies. It is the most common childhood intraocular cancer, and about 8 000 children are newly diagnosed every year worldwide (1/16 000 live births). RB can be fatal if left untreated. The mortality rate is 70% in low- and middle-income countries. As the first identified cancer with genetic etiology, RB has provided many key insights on tumor formation, such as identification of the first tumor suppressor gene (RB1). RB initiates in response to biallelic loss of RB1, early proliferation may then trigger cellular senescence that leads to benign retinoma. However, the mechanisms underlying the eventual tumor formation remain unclear. It becomes increasingly clear that RB originates from cone precursors. Hence, a known initiating driver mutation and cell of origin make it possible to establish a RB model and dissect the molecular mechanism of tumorigenesis more precisely. These will finally contribute to early diagnosis, cancer prevention and development of potential therapeutic strategy

CSTR: 32200.14.cjcb.2022.09.0011