MLH1基因启动子甲基化在子宫内膜癌中的应用研究进展  

Research progress on the application of MLH1 promoter methylation in endometrial cancer

作　　者：李晓盈 张鑫 张伟健 阮晓红 LI Xiaoying;ZHANG Xin;ZHANG Weijian;RUAN Xiaohong(The First Clinical Medical College,Guangdong Medical University,Zhanjiang 524023,China;Jiangmen Central Hospital,Guangdong Medical University,Jiangmen 529030,China)

机构地区：[1]广东医科大学第一临床医学院,广东湛江524023 [2]广东医科大学江门市中心医院,广东江门529030

出　　处：《陕西医学杂志》2025年第5期711-715,720,共6页Shaanxi Medical Journal

基　　金：国家自然科学基金资助项目(81802918);广东省科技创新战略资金资助项目(2019A1515011565);广东省江门市科技计划项目(2020030103110009027)。

摘　　要：子宫内膜癌(EC)是女性生殖系统常见的恶性肿瘤。近年来,表观遗传学机制在EC的发生和发展中引起了广泛关注。其中,MutL同源物1(MLH1)基因启动子区甲基化是EC常见的表观遗传改变,可导致基因沉默,进而引起微卫星不稳定性(MSI)。研究发现,MLH1基因启动子甲基化不仅参与EC的发生和发展,还可影响其诊断、治疗及预后。现对MLH1基因启动子甲基化的分子机制、检测方法及其在EC临床诊断、治疗策略及预后评估中的应用进行综述。Endometrial cancer(EC)is a common malignant tumor of the female reproductive system.In recent years,epigenetic mechanisms have attracted widespread attention in the occurrence and development of EC.Among these mechanisms,methylation of the MutL homolog 1(MLH1)gene promoter is a frequent epigenetic alteration in EC,leading to gene silencing and subsequent microsatellite instability.Studies have shown that MLH1 promoter methylation is not only involved in the occurrence and development of EC but also affects its diagnosis,treatment and prognosis.This article reviews the molecular mechanisms,detection methods and applications of MLH1 promoter methylation in the clinical diagnosis,treatment strategies and prognostic evaluation of EC.

关 键 词：子宫内膜癌 MutL同源物1 启动子甲基化 错配修复缺陷 表观遗传 

分 类 号：R737.33[医药卫生—肿瘤]