MMR蛋白在Lynch综合征相关子宫内膜癌初筛中的应用  

Application of MMR protein in primary screening of Lynch syndrome-related endometrial carcinoma

作　　者：慕庆玲 夏宝国[1] 刘莹[1] 袁文娟[1] 栾少红[1] 陈龙[1] Mu Qingling;Xia Baoguo;Liu Ying(Department of Obstetrics and Gynecology,Qingdao Municipal Hospital,Qingdao 266000)

机构地区：[1]青岛市市立医院妇产科

出　　处：《现代妇产科进展》2019年第7期495-497,共3页Progress in Obstetrics and Gynecology

摘　　要：目的:通过检测错配修复(MMR)蛋白在子宫内膜癌(EC)中的表达情况,探讨MMR蛋白在Lynch综合征相关EC中筛查的可行性。方法:收集2015年6月至2018年6月于青岛市市立医院行免疫组化法检测MMR蛋白(MLH1/MSH2/MSH6/PMS2)表达的EC患者80例,分析MMR蛋白表达缺失病例的临床资料及肿瘤组织病理学特点,其中2例行全外显子测序明确基因突变位点。结果:80例EC患者中,MMR蛋白表达缺失者22例(27.5%),其中以MLH1和PMS2蛋白缺失表达为主。MMR蛋白表达缺失者年龄相对更小,以子宫下段居多(P<0.05)。其中2例经全外显子基因测序验证了相应MMR基因的突变。结论:免疫组化检测MMR蛋白表达缺失可用于Lynch综合征相关EC的初筛。MMR蛋白表达缺失与患者低龄及病灶部位相关。对于经济条件允许的患者,可进一步行全外显子测序确定相关基因的突变位点。Objective:To investigate the feasibility of screening Lynch syndrome-related endometrial carcinoma by detecting the expression of mismatch repair(MMR)proteins in endometrial carcinoma patients.Methods:80 patients with endometrial carcinoma treated in Qingdao Municipal Hospital between Jun.2015 to Jun.2018 were reviewed.The expression of MMR protein(MLH1/MSH2/MSH6/PMS2)assessed by immunohistochemistry(IHC)and their clinicopathological features were analyzed.Among them,two patients underwent whole exome sequencing to identify corresponding gene mutation sites.Results:Loss of MMR expression was found in 22 patients(27.5%),mainly MLH1 and PMS2 protein deficient.The deficiency of MMR expression was relatively younger and more common in the lower uterus(P<0.05).Two whole exome sequencing results verified the mutation of the corresponding MMR gene.Conclusion:The deficiency of MMR detected by IHC helped to screen Lynch syndrome-related endometrial carcinoma.The MMR protein deficiency expression was correlated with younger age and lesion site.For patients with good economic conditions,whole exome sequencing was recommended to verify the mutation site of the relevant gene.

关 键 词：LYNCH综合征 子宫内膜癌 DNA错配修复 免疫组织化学 全外显子测序 

分 类 号：R737.33[医药卫生—肿瘤]