Lynch-like综合征的研究进展

Progress of Lynch-like syndrome

错配修复系统功能缺失与结直肠癌的发生相关。有部分结直肠癌出现了错配修复缺陷, 不仅检测不到MLH1启动子甲基化, 也检测不出错配修复基因的胚系突变, 因这部分群体表现与Lynch综合征非常相像而得名Lynch-like综合征。Lynch-like综合征具有一定的遗传特性, 但发病机制还未得到足够的认识, 不能将其简单的划为散发性结直肠癌或者Lynch综合征, 也缺乏对该类型患者的遗传学认知及监测标准。文章将对Lynch-like综合征的研究进展进行综述。

The functional loss of the mismatch repair system is related to the occurrence of colorectal cancer.Some colorectal cancers have mismatch repair defects,however,the methylation of the MLH1 promoter cannot be detected,and germline mutations of the mismatch repair genes are not detected.Because this part of the group is very similar to Lynch syndrome,it is named Lynch-like syndrome.Lynch-like syndrome has certain genetic characteristics,but the pathogenesis has not been fully understood;and it cannot be simply classified as sporadic colorectal cancer or Lynch syndrome,and there is a lack of genetic knowledge and monitoring standards of these patients.This article introduces the progress of Lynch-like syndrome.