Abstract:

Retinoblastoma is the most common malignant ocular tumor among young children. The famous “two-hit hypothesis” states that loss of both alleles of a tumor suppressor gene (RB1 gene) is necessary to initiate retinoblastoma. However, recent researches reveal that oncogene MYCN amplification is much more common among unilateral retinoblastoma without a detectable RB1 mutation, thus RB1+/+MYCNA is regarded as a new genotype of retinoblastoma. Compared to classical RB1-/- tumors, RB1+/+/MYCNA tumors show early onset, strongers and low salvage rate. MYCN gene also provides a new target for precise treatment of retinoblastoma. (Int Rev Ophthalmol, 2020, 44：133-139)