Detecting RB1 gene mutations in retinoblastoma tumour of patients in Northern Vietnam in 2020

Abstract

Retinoblastoma, a type of eye cancer in children, is mostly caused by inactivating mutations of both copies of the RB1 gene. Early diagnosis and identification of RB1 gene mutations would improve treatment outcomes and patients’ management. This study was performed on 10 tumour samples of retinoblastoma patients using the direct sequencing technique. 11 different mutations were found in 9 out of 10 tumour samples, including 6 nonsense mutations, 1 missense mutation, 1 splice site mutation, and 3 frameshift mutations with 1 novel mutation that has not been reported before. The MLPA method was required to identify large deletion mutations in the RB1 gene and the study on more samples to provide a picture of RB1 gene mutations in Vietnamese retinoblastoma patients.