喀什地区林奇综合征错配修复蛋白检测分析

Detection and analysis of mismatch repair proteins in Lynch syndrome in the Kashgar region

目的探究喀什地区林奇综合征错配修复(mismatch repair,MMR)蛋白表达情况。方法收集2016年6月至2020年6月喀什地区第一人民医院诊治的300例林奇综合征患者病理标本,检测其MMR蛋白包括MutL同源物1(human MutL homolog 1,MLH1)、MutS同源物2(MutS homolog 2,MSH2)、PMS1同源物2(PMS1 homolog 2,PMS2)、MutS同源物6(MutS homolog 6,MSH6)表达情况。根据林奇综合征患者MMR蛋白表达缺失情况将其分为错配修复蛋白缺失(deficient mis⁃match repair,dMMR)组(n=50)和错配修复蛋白完整(proficient mismatch repair,pMMR)组(n=250),分析MMR蛋白表达缺失与林奇综合征患者病理特征的关系,比较dMMR与pMMR患者的生存情况。结果300例林奇综合征患者中,dMMR发生率为16.67%(50/300),pMMR发生率为83.33%(250/300),其中MLH1蛋白表达缺失率为3.67%(11/300),MSH2蛋白表达缺失率为8.00%(24/300),PMS2蛋白表达缺失率为3.00%(9/300),MSH6蛋白表达缺失率为2.00%(6/300),MLH1和PMS2蛋白同时表达缺失率为6.00%(18/300),MSH2和MSH6蛋白表达缺失率为5.67%(17/300),MLH1、MSH2、PMS2、MSH6蛋白同时表达缺失率为1%(3/300)。dMMR组患者肿瘤在右半结肠、分化程度低、浸润至浆膜外的占比显著高于pMMR组(P<0.05)。dMMR组和pMMR组2年生存率分别为87.50%、72.10%,Kaplan⁃Meier生存分析显示,2组患者的2年生存率差异有统计学意义(Log Rank=5.156,P=0.023)。结论喀什地区林奇综合征患者MLH1、MSH2、PMS2、MSH6蛋白表达与病理特征关系密切,检测MLH1、MSH2、PMS2、MSH6蛋白表达情况在林奇综合征的诊断和预后评估中具有重要价值。

Objective To investigate the expression of Mismatch repair(MMR)in Lynch syndrome in the Kashi region.Methods 300 pathological specimens of Lynch syndrome patients diagnosed and treated in the First People’s Hospital of Kashi from June 2016 to June 2020 were collected for study.The detection of MMR included the expressions of MutL homolog 1(MLH1),MutS homolog 2(MSH2),PMS1 homolog 2(PMS2)and MutS homolog 6(MSH6).The patients were divided into the deficient mismatch repair(dMMR)group(n=50)and the complete mismatch repair protein(pMMR)group(n=250),depending on whether or not they were lacking in MMR protein expressions in the Lynch syndrome patients.The relationship between MMR protein expression deficiency and pathological features in the Lynch syndrome patients was analyzed,and the survival of dMMR and pMMR patients were compared.Results In the 300 Lynch syndrome patients,the rate of dMMR was 16.67%(50/300),and the rate of pMMR was 83.33%(250/300),of which the rate of MLH1 protein expression deficiency was 3.67%(11/300),the rate of MSH2 protein expression deficiency was 8.00%(24/300),the rate of PMS2 protein expression deficiency was 3.00%(9/300),the rate of MSH6 protein expression deficiency was 2.00%(6/300),the rate of MLH1 and PMS2 protein expression deficiency was 6.00%(18/300),the rate of MSH2 and MSH6 protein expression deficiency was 5.67%(17/300)and the rate of MLH1,MSH2,PMS2,MSH6 protein expression deficiency was 1%(3/300).The tumors in the patients of the dMMR group were in the right colon with low differentiation,and the proportion of infiltrating to the outside of serosa was significantly higher than that in the pMMR group(P<0.05).The 2⁃year survival rates of the dMMR group and the pMMR group were 87.50%and 72.10%,respectively.Kaplan⁃Meier survival analysis showed that there was significant difference in the 2⁃year survival rates between the two groups(Log Rank=5.156,P=0.023).Conclusion The expressions of MLH1,MSH2,PMS2 and MSH6 in the Lynch syndrome patients in the Kashgar region are closely related to the pathological features,and the detection of MLH1,MSH2,PMS2 and MSH6 is of great value in the diagnosis and prognosis evaluation of Lynch syndrome.