林奇综合征相关性子宫内膜癌病理学研究进展  

Pathological advances in Lynch syndrome associated with endometrial carcinoma

作　　者：郭超[1,2] 刘爱军[1] 

机构地区：[1]解放军总医院病理科,北京100853 [2]解放军总医院门诊部,北京100853

出　　处：《解放军医学院学报》2015年第6期640-642,F0003,共4页Academic Journal of Chinese PLA Medical School

基　　金：解放军总医院科技创新基金(13KMM47)

摘　　要：林奇综合征(Lynch syndrome,LS)是一种常染色体显性遗传性癌症易感性综合征,既往被称为遗传性非息肉病性结直肠癌,由DNA错配修复(mismatch repair,MMR)基因胚系突变引起。LS是遗传性结直肠癌最常见的表现。研究发现,MMR基因突变也导致了相当比例子宫内膜癌的发生。目前对LS相关性子宫内膜癌的认识非常有限,有些观点还存在争议。本综述总结了LS相关性子宫内膜癌的临床病理研究新进展及对所有子宫内膜癌患者进行LS筛查的意义。Lynch syndrome （LS） is the most common hereditary syndrome that predisposes patients to colorectal cancer. Lynch syndrome is defined as a hereditary predisposition to colorectal as a result of a germline mismatch repair （MMR） gene mutation. LS is the most common performance of hereditary nonpolyposis colorectal cancer. Many researches find that MMR gene mutations also cause endometrial carcinoma. While, our knowledge of LS associated with endometrial carcinoma is very limited, some opinions are still controversial. This review focuses on clinical pathological advances in LS associated with endometrial carcinoma and significance of screening in endometrial carcinoma.

关 键 词：林奇综合征 子宫内膜癌 遗传性疾病 

分 类 号：R737.33[医药卫生—肿瘤]