关注RB1基因突变检测在视网膜母细胞瘤诊疗及遗传咨询中的作用  

Emphasizing on the importance of RB1 genetic testing in diagnosis/treatment and genetic counseling of retinoblastoma

作　　者：陈大年[1,2] 范依萌 Chen Danian;Fan Yimeng(Research Laboratory of Ophthalmology and Vision Sciences,West China Hospital,Sichuan University,Chengdu 610041,China;Lunenfeld-Tanenbaum Research Institute,Sinai Health System,Departments of Ophthalmology and Visual Science,and Laboratory Medicine and Pathobiology,University of Toronto,Toronto M5G IX5 Canada)

机构地区：[1]四川大学华西医院眼科学研究室,成都610041 [2]M5G IX5多伦多,多伦多大学眼科及西奈山医院研究所

出　　处：《中华实验眼科杂志》2018年第10期742-747,共6页Chinese Journal Of Experimental Ophthalmology

摘　　要：视网膜母细胞瘤（RB）是人类遗传型肿瘤的原型，是常见的儿童眼内恶性肿瘤，其发生和发展与肿瘤抑制基因RB1基因的突变密切相关。RB1基因突变检测和遗传咨询有助于为患者及其家庭提供理想的诊疗及随访方案。在2017年最新的第8版国际TNM肿瘤分期标准中，首次把遗传性（H）作为RB的临床分期标准，这是国际上首个TNMH分期标准。但目前由于RB1基因突变的复杂性、现有基因检测方式的局限性、遗传咨询人才的缺乏等原因，RB1基因突变检测在中国的开展水平还比较低。在中国大力发展精准医学的时代，眼科医师应加倍努力，推动RB1基因突变检测在中国的应用。Retinoblastoma(RB)is the prototype of hereditary neoplasms in humans.It is the most common intraocular malignancy in children,which is mainly caused by RB1 gene mutation.RB1 genetic testing and genetic counseling supports optimal care and follow-up plan for RB patients and their families.RB is the first cancer to officially acknowledge the seminal role of genetics in cancer,by incorporating“H”into the eighth edition of cancer staging(2017);those who carry the RB1 cancer-predisposing gene are H1;those proven to not carry the familial RB1 mutation are H0;and those at unknown risk are HX.However,due to the complexity of RB1 gene mutation,the limitation of current genetic test,the lack of genetic counseling specialty,there is limited application of genetic testing and counseling in China.In the era of precision medicine,we need to advocate the application of RB1 genetic testing in the management of RB patients in China.

关 键 词：视网膜母细胞瘤 RBI基因 基因突变 基因检测 遗传咨询 

分 类 号：R739.7[医药卫生—肿瘤]