林奇综合征相关子宫内膜癌研究进展

Advances in the Study of Lynch Syndrome Associated Endometrial Cancer

林奇综合征(Lynch syndrome,LS)是错配修复基因缺陷引起的常染色体显性遗传病,多系统恶性肿瘤易感是其主要特征,LS相关子宫内膜癌(LS associated endometrial cancer,LS-EC)是LS最常见的肠外前哨癌。精准医学时代,LS-EC的早期筛查对于预防LS相关其他恶性肿瘤的发生具有重要意义。本文就LS-EC的筛查手段及预防研究进展进行综述,以期为LS相关肿瘤患者精准诊疗及预防提供参考。

Lynch syndrome(LS),an autosomal dominant genetic disorder caused by mismatch repair gene defects,is characterized by the susceptibility to multi-system malignancies.LS associated endometrial cancer(LS-EC)is the most common extraintestinal sentinel cancer of LS.In the era of precision medicine,early screening of LS-EC is of great significance to preventing the occurrence of other LS related malignant tumors.This paper reviews the research progress on screening methods and prevention of LS-EC,in order to provide reference for precise diagnosis and prevention of LS-related tumors.