重视开展视网膜母细胞瘤的基因诊断工作  

The importance of carrying out the gene diagnosis for retinoblastoma

作　　者：陈长征[1] 郁想想[1] 

机构地区：[1]武汉大学人民医院眼科,430060

出　　处：《中华实验眼科杂志》2013年第7期617-620,共4页Chinese Journal Of Experimental Ophthalmology

摘　　要：近年来，综合治疗技术的进步提高了视网膜母细胞瘤（RB）患儿的生存率和生活质量。不容忽视的是，部分RB患者在首次治疗后仍可复发，并且RB患者的亲属也有患病的风险，而解决这些问题需要借助基因诊断和治疗技术。目前发达国家和中国香港地区学者将基因诊断用于指导RB群体的治疗和生育，已取得一定的成效，但目前Rb1基因突变整体检出率仍然偏低。多年的研究显示，RB的基因诊断工作是极其复杂的领域；真正实现为RB患者及其家庭给予全面、准确的遗传指导仍然任重道远。在中国，基因诊断的临床和基础研究工作正处于起步阶段，与发达国家相比尚有很大的差距，应重视RB的基因诊断工作，加快中国此项工作的推广和普及。The progress of modality therapy has improved both survival rate and quality of life of retinoblastoma （RB） patients. However, some problems are still left and unsolved. Parts of the RB relapse after they are treated for the first time. Even more remarkable, the related individuals to the RB patients run a risk of RB. Gene diagnosis and treatment are emerging and appear to solve these problems. Some researches in developed countries and Hong Kong have successfully made progress in gene diagnosis of RB. However,the detection rate of Rbl gene mutation is very low. Researches documented for many years that gene diagnosis for RB is extremely complex, so we should go further to achieve a goal of gene diagnosis. Gene diagnosis of RB is still an initiation in China. We should strengthen relevant study and spread this technique.

关 键 词：肿瘤 视网膜母细胞瘤 遗传 基因诊断 生育指导 

分 类 号：R739.7[医药卫生—肿瘤]