视网膜母细胞瘤的治疗、基因组学和表观基因组学研究进展

摘要

视网膜母细胞瘤（ retinoblastoma，RB）是一种好发于婴幼儿的最常见的眼内恶性肿瘤，严重危害患儿的视力、眼球甚至生命。我国的RB患儿多为高风险晚期，多数患儿不得已采用眼球摘除术，严重影响日后生存质量。 RB是第一个发现的与基因改变有关的疾病，视网膜母细胞瘤基因1（ RB1）及其等位基因的失活是RB发病的首要原因。近年来研究表明，RB的发生发展与基因组及表观基因组均有很大的关系。现对RB治疗概况及其基因组学、表观基因组学研究进展做一综述。%Retinoblastoma is the most common pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene ( RB1 ) , affecting roughly 1 in 15000 children with 1100 new cases each year.In China, RB remains a potentially devastating disease while lack of early diagnosis and aggressive treatment strategies.Moreover, RB patients individually show a variety of drug response to regular systemic chemotherapy since intensive chemotherapy and long-term follow-up are not as readily available.The majority of patients with advanced diseases require enucleation which affects the future quality of children life.Recent studies showed that alterations in genomics and epigenomics of RB play very important roles in RB progress and therapy.We thereby review current understanding changes of genomics and epigenomics in RB as potential prognostic and therapeutic targets.