作者：丁伟杰, 李庆贤

单位：东莞市人民医院普济院区 普外科二区, 广东 东莞 523045

Authors: Ding Wei jie, Li Qingxian

Unit:  The Second Department of General Surgery, Puji District of Dongguan People's Hospital, Dongguan 523045, Guangdong, China

摘要：

目的 Lynch综合征又名遗传性非息肉病性结直肠癌,是由MS2的胚系突变导致微卫星不稳定性(microsatellite instability,MSI)而引起的常染色体显性遗传性癌症易感性疾病。MSH2失活引起DNA错配修复,造成MSH2蛋白表达缺失,出现致病变异。Lynch综合征是最常见的遗传性结肠癌易感综合征,占比高达2%～5%且患者平均发病年龄较为年轻(40～50岁),其结直肠癌及其他恶性肿瘤的患病风险也大大增加,例如胃癌、大肠癌、子宫内膜癌等。对于Lynch综合征的筛查与诊疗一直是临床上难以解决的问题。本文通过1例确诊Lynch综合征病例展开讨论Lynch综合征的诊断手段及其原理。

关键词：  Lynch综合征; 结直肠癌; 错配修复基因; 微卫星不稳定

Abstract：

Lynch syndrome(LS), has been known as hereditary non- polyposis colorectal cancer, an autosomal dominant inherited disease which is caused by microsatellite instability of MS2 germline mutation. LS is the most common hereditary colorectal cancer syndrome, accounting for as high as 2%~5%, and the average age of onset is relatively young (40~50 years old). LS places the patients at higher risk of colorectal cancer and other malignant tumors. The screening and diagnosis of LS is always difficult problem to solve in clinical. This paper discusses the diagnostic methods and principles of LS through a confirmed LS case.

Key Words:  Lynch syndrome; Colorectal cancer; Mismatch repaire gene; Microsatellite instability