视网膜母细胞瘤相关基因研究进展

摘要

视网膜母细胞瘤(RB)是婴幼儿常见的眼内恶性肿瘤,严重危害患儿的视力、眼球,甚至生命.RB起源于视网膜胚胎发育阶段,其发生和发展与人类第1个分离克隆的抑癌基因RB1密切相关.RB12个等位基因的失活是RB发生和发展的基础.近年来,随着分子生物以及基因工程技术的迅猛发展,RB相关基因研究取得了一定进展.研究发现,RB的发生和发展除了存在RB1基因突变外,还存在许多染色体层面的改变,癌基因MYCN、鼠双微体4(MDM4,又称MDMX)、驱动蛋白家族成员14(KIF14)、DEK、E2F3,以及抑癌基因钙粘连素11(CDH11)等也在RB的发生和发展中发挥驱动作用.现就RB相关基因的研究进展进行综述,从DNA分子水平认识RB的发生和发展规律,为基因治疗RB以及临床医师制定治疗方案提供科学依据.%Retinoblastoma (RB) is a common intraocular malignant tumor of infants.It not only seriously threats children's eyesight,but also endangers their lives.RB develops from the immature cells of retina and its occurrence is closely related with the tumor suppressor gene RB1.The inactivation of two alleles of RB1 is the basis of RB occurrence and development.With the rapid development of biological technology,RB gene related research has made great progress.Researches showed that there are many changes in the chromosome level of RB.Many genes are also involved in the development and progression of RB,including oncogene MYCN,murine double minute 4 (MDM4,also known as MDMX),driver protein family members 14 (K IF14),DEK,E2F3,tumor suppressor gene calcium 11 (CDH11) and so on.This review summarizes the progress in gene research of RB,reveal pathogenesis of RB on DNA molecular level and provides a scientific basis for clinical doctors to formulate effective therapeutic plans.