林奇综合征相关性子宫内膜癌研究进展  

Research progress of endometrial carcinoma associated with Lynch syndrome

作　　者：顾宁宁 许天敏[1] 齐月 王鑫 王晓君 祝贺[1] GU Ningning;XU Tianmin;QI Yue;WANG Xin;WANG Xiaojun;ZHU He(Department of Obstetrics and Gynecology,Second Hospital of Jilin University,Jilin Changchun 130000,China)

机构地区：[1]吉林大学第二医院妇产科,吉林长春130000

出　　处：《现代肿瘤医学》2024年第8期1522-1526,共5页Journal of Modern Oncology

摘　　要：林奇综合征(Lynch syndrome,LS)又称遗传性非息肉性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC),是由DNA错配修复(mismatch repair,MMR)基因突变引起的常染色体显性遗传性疾病。其特征是家族性聚集,发病早,多见于右半结肠,伴同时性或异时性的肠外恶性肿瘤,结直肠癌(colorectal cancer CRC)和子宫内膜癌(endometrial cancer,EC)是最常见的Lynch综合征相关肿瘤,其他肿瘤包括小肠癌、胃癌、胆管癌、卵巢癌、肾盂/输尿管癌、皮脂腺肿瘤等。EC是女性最常见的Lynch综合征相关肠外肿瘤,终身风险高达40%~60%。研究表明,女性错配修复基因携带者患EC的终身风险超过患CRC风险。目前国内关于林奇综合征相关性子宫内膜癌(endometrial carcinoma associated with Lynch syndrome,LS-EC)的研究尚处于起步阶段,对LS-EC的筛查、诊断仍未得到足够重视。本文就LS-EC的发病机制、筛查、诊断、临床病理特征、预防及治疗作一综述。Lynch syndrome(LS),also known as hereditary nonpolyposis colorectal cancer(HNPCC),is an autosomal dominant hereditary disease caused by DNA mismatch repair(MMR)gene mutation.It is characterized by familial aggregation,early onset,mostly in the right colon,with synchronous or metachronous extraintestinal malignant tumors.Colorectal cancer(CRC)and endometrial cancer(EC)are the most common LS-related tumors.Other tumors include small bowel cancer,gastric cancer,cholangiocarcinoma,ovarian cancer,renal pelvis/ureteral cancer,sebaceous gland tumor and so on.EC is the most common LS-related extraintestinal tumor,with a lifetime risk of 40% to 60%.Studies have shown that female mismatch repair gene carriers have a lifetime risk of developing EC that outweighs the risk of CRC.At present,the domestic research on endometrial carcinoma related to Lynch syndrome(LS-EC)is still in its infancy,and not enough attention has been paid to the screening and diagnosis of LS-EC.This article reviews the pathogenesis,screening,diagnosis,clinicopathological features,prevention and treatment of LS-EC.

关 键 词：林奇综合征 子宫内膜癌 诊断 筛查 预防 

分 类 号：R737.33[医药卫生—肿瘤]