Lynch综合征的诊治进展和家系管理  

Progress on the diagnosis,treatment,and family management of Lynch syndrome

作　　者：钟晨菡 李晓芬[1] 徐栋[2] 袁瑛[1] 

机构地区：[1]浙江大学医学院附属第二医院肿瘤内科,杭州市310009 [2]浙江大学医学院附属第二医院肿瘤外科

出　　处：《中国肿瘤临床》2016年第20期883-886,共4页Chinese Journal of Clinical Oncology

基　　金：国家科技支撑计划项目(编号:2014BAI09B07)资助~~

摘　　要：Lynch综合征(Lynch syndrome,LS)是遗传性结直肠癌中最常见(约占5%)的一类常染色体显性遗传病,错配修复基因的种系突变和微卫星不稳定是其区别于其他遗传性结直肠癌的两大特点。近年来,研究发现在诊断和治疗上,LS与散发性结直肠癌有一定的区别;此外除了患者本人的诊断和治疗,整个家系的管理也至关重要。此类疾病应当引起临床高度重视。本文对LS的最初定义、诊断标准和筛查标准的变迁、最新治疗进展和家系管理进行综述,旨在帮助临床了解LS,给予患者合理的治疗,以及对其家系成员适当的干预和监控,尽可能降低患癌风险。Lynch syndrome is the most common type of genetically determined colon-cancer predisposition syndrome, accounting for 5%of all colorectal cancer （CRC） cases. This hereditary syndrome is characterized by the germline mutation of human mismatch repair genes and microsatellite instability. Recent studies have shown that Lynch syndrome and sporadic CRC differ in diagnosis and treat-ment;these results are especially relevant for the clinical management of Lynch syndrome. In this review, we reverted to the original characterization of Lynch syndrome, and the developments in its screening and diagnosis were summarized. Furthermore, the manage-ment of families with this disorder was discussed.

关 键 词：遗传性结直肠癌 LYNCH综合征 错配修复基因 微卫星不稳定性 筛查 

分 类 号：R735.3[医药卫生—肿瘤]