肠外非子宫内膜癌Lynch综合征研究进展  

Research progress of Lynch syndrome in parenteral non endometrial carcinoma

作　　者：鞠晓静 JU Xiao-jing(Department of Pathology,Tianjin Wuqing District Hospital of Traditional Chinese Medicine,Tianjin 301700,China)

机构地区：[1]天津市武清区中医医院病理科,天津301700

出　　处：《中国城乡企业卫生》2022年第4期48-50,共3页Chinese Journal of Urban and Rural Enterprise Hygiene

摘　　要：Lynch综合征是一种由于碱基错配修复基因缺陷引起的常染色体显性遗传病,具有较高的癌症发生风险,该类综合征以结直肠癌及子宫内膜癌的发生为主要临床表现。DNA错配修复基因发生种系突变是该疾病发生的遗传学基础,相关肿瘤的发生主要与包括MLH1、MSH2、MSH6及PMS2在内的MMR基因胚系突变有关。大约70%的Lynch综合征是由MSH2和h MLH1突变所致,其余30%多由MSH6和PMS2突变所致。肠外Lynch综合征患者可同时或异时发生多种肿瘤,除了最常发生的子宫内膜癌,尿路上皮癌、胃癌、小肠癌、卵巢癌和非黑素瘤皮肤癌均可出现。目前对于肠外Lynch综合征的研究多集中于子宫内膜癌,对于其他部位的肿瘤尚无大规模的研究报道。虽然这些肠外肿瘤的发病率远低于子宫内膜癌,但某些类型的肿瘤,如卵巢癌,其累积致癌风险和致死率均较高。此外,性别、环境等多种非遗传学因素也会对肠外Lynch综合征的发生产生一定的影响。本文对肠外非子宫内膜癌Lynch综合征相关的肿瘤研究进展进行综述,希望可以为该类肿瘤患者后期筛查策略的制订提供一些建议。Lynch syndrome is an autosomal dominant disease caused by base mismatch repair gene defect,which has a high risk of cancer. The main clinical manifestations of this kind of syndrome are colorectal cancer and endometrial cancer. Germline mutations in DNA mismatch repair genes are the genetic basis of the disease. The occurrence of related tumors is mainly related to germline mutations of MMR genes including MLH1, MSH2, MSH6 and PMS2. About 70% of Lynch syndrome is caused by MSH2 and h MLH1 mutations, and the remaining 30% is caused by MSH6 and PMS2 mutations. Patients with parenteral Lynch syndrome can have a variety of tumors at the same time or at different times. In addition to the most common endometrial cancer, urothelial cancer, gastric cancer, small bowel cancer, ovarian cancer and non melanoma skin cancer can appear. At present, the research on parenteral Lynch syndrome mostly focuses on endometrial cancer, and there is no large-scale research report on tumors in other parts.Although the incidence rate of these extra intestinal tumors is far lower than that of endometrial cancer,some types of tumors, such as ovarian cancer, which have higher cumulative cancer risk and mortality. In addition, gender, environment and other non genetic factors will also have a certain impact on the occurrence of parenteral Lynch syndrome. This paper reviews the research progress of parenteral Lynch syndrome related tumors apart from endometrial cancer, hoping to provide some suggestions for the formulation of later screening strategies for patients with this kind of tumors.

关 键 词：LYNCH综合征 DNA错配修复基因 肠外 非子宫内膜癌 

分 类 号：R730.2[医药卫生—肿瘤]