AB109. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα KIF13A and MGMT alterations

摘要

BackgroundRetinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. However, the mechanisms that enable RB cells to acquire the additional hallmarks of cancer are still unknown. Hence, it is postulated that other genetic defects like focal amplification of MYCN, BCOR, TNFα and OTX2 may be present that drives tumor progression in RB.