摘要/Abstract

摘要： 子宫内膜癌（endometrial carcinoma，EC）是异质性很强的妇科恶性肿瘤，根据最新的分子分型EC分为错配修复基因缺陷（mismatch repair deficiency，MMRd）相关EC和非MMRd相关EC。而MMRd相关EC又根据突变的特征分为3个亚型：MLH1高度甲基化型EC（MLH1-hypermethylationged EC，EC-met）、林奇综合征相关EC（Lynch syndrome associated EC，EC-ls）和体细胞MMR相关致病基因的等位基因双突变型EC（mismatch repair gene double somatic variants，EC-dspv）。3个亚型内膜癌的发病机制不同，临床特征也有很大的差异，必须根据临床特征及免疫学特征加以区别，以采取不同的精准化治疗策略。该文综述MMRd相关EC的分型，对3个亚型和无错配修复基因缺陷（mismatch repair proficiency，MMRp）的EC进行临床特征、免疫特征等方面的比较，并介绍MMRd治疗及预后相关的研究及临床试验。
关键词: 子宫内膜癌, 错配修复基因缺陷, MLH1
Abstract:
Endometrial carcinoma is a very heterogeneous gynecological cancer. According to the latest molecular classification, endometrial carcinoma is divided into mismatch repair deficiency (MMRd)-related EC and non-MMRd-related EC. And MMRd-related EC is divided into three subtypes according to the characteristics of mutation: MLH1-hypermethylationged endometrial carcinoma (EC-met); Lynch syndrome-related endometrial carcinoma (EC-ls) and mismatch repair gene double somatic variants (EC-dspv). The three subtypes of EC have different pathogenesis and clinical characteristics. Therefore, they must be distinguished according to clinical and immunological characteristics in order to adopt precise treatments. This article mainly introduces the classification of MMRd-related endometrial carcinoma, and compares the three subtypes with the mismatch repair proficiency (MMRp) of EC in terms of clinical and immune features. Finally, this review introduces recent researches and clinical trials related to the treatment and prognosis of MMR.
Key words: endometrial cancer, mismatch repair deficiency (MMRd), MLH1


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