林奇综合征相关子宫内膜癌研究进展  

Advances in Lynch Syndrome Associated with Endometrial Carcinoma

作　　者：张群[1] 王玲[1] 韩丽英[1] ZHANG Qun;WANG Ling;HAN Li -ying(Department of Obstetrics and Gynecology,The Second Hospital of Jilin University,Changchun 130000,China)

机构地区：[1]吉林大学第二医院妇产科

出　　处：《国际妇产科学杂志》2019年第5期564-567,共4页Journal of International Obstetrics and Gynecology

摘　　要：林奇综合征(lynch syndrome,LS)是一种常染色体显性遗传病,既往称为遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC),是由DNA错配修复(mismatch repair,MMR)基因MLH1、MSH2、MSH6和PMS2的胚系突变引起。LS患者有多种癌变倾向、发病低龄化及家族易感性,可同时或异时发生结直肠癌、子宫内膜癌(endometrial cancer,EC)、卵巢癌、胃癌和乳腺癌等,女性患者中EC与之最为密切,目前我国对于LS相关EC(LS-EC)认识尚不足,并未形成完整的诊疗标准或指南。为提高对LS-EC的认识,综述LS-EC的分子机制、临床病理特征、筛查及诊断、临床治疗手段、预防等。Lynch syndrome (LS) is an autosomal dominant hereditary disease, formerly known as hereditary nonpolyposis colorectal cancer (HNPCC), which is caused by mismatch repair (MMR) gene mutations in the germline of MLH1, MSH2, MSH6 and PMS2. LS patients have a variety of canceration tendency, low age of onset and family susceptibility, and can develop colorectal cancer, endometrial cancer (EC), ovarian cancer, gastric cancer, and breast cancer at the same or different time. EC is most closely related to it in female patients. At present, there is still insufficient understanding of LS -EC in China, and no complete diagnosis and treatment standards or guidelines have been formed. Therefore, this paper reviews the molecular mechanism, clinicopathological characteristics, screening and diagnostic methods, clinical treatment methods and prevention of LS-EC to improve the understanding of LS-EC.

关 键 词：林奇综合征 子宫内膜肿瘤 DNA错配修复 基因 诊断 治疗 

分 类 号：R737.33[医药卫生—肿瘤]