MMR蛋白在云南地区遗传性非息肉病性大肠癌中的表达及意义

Expression of MMR Proteins in Hereditary Nonpolyposis Colorectal Cancer in Yunnan Region

目的探讨MLH1、MSH2、PMS2和MSH6蛋白在云南地区遗传性非息肉病性大肠癌(heredi-tary nonpolyposis colorectal cancer,HNPCC)中的表达及意义。方法根据目前国内外通常采用的三个标准在云南地区选择遗传性非息肉病性大肠癌病例13个家系中19例肿瘤组织,应用免疫组织化学方法(I HC)检测MLH1、MSH2、PMS2和MSH6蛋白。结果在这13个家系中,MLH1、MSH2、PMS2和MSH6四种蛋白表达缺失率分别为30.77%、38.46%、23.08%、15.38%,其中2例家系先证者同时存在MLH1和PMS2蛋白表达缺失,2例家系先证者同时存在MSH2和MSH6蛋白表达缺失,四种MMR蛋白总的表达缺失率为84.62%。结论云南地区HNPCC病例存在MLH1、MSH2、PMS2和MSH6四种MMR蛋白不同程度的缺失表达,应用I HC检测MMR蛋白可以作为筛选HNPCC家系的一有效手段。

Objective To evaluate the significance of the expression of MLH1,MSH2,PMS2 and MSH6 proteins in hereditary non polyposis colorectal cancer cases in Yunnan region.Methods Using current three criteria commonly used in China and abroad to select HNPCC 19 tumor tissue cases from 13 families in Yunnan region,and these tumor tissue were assessed by immunohistochemical detection of MLH1,MSH2,PMS2 and MSH6 proteins.Results In the 19 tumor tissues cases,the expression loss rates of MLH1,MSH2,PMS2 and MSH6 proteins were 30.77%,38.46%,23.08% and 15.38% respectively.And in these case of absent of MMR protein,2 cases were lost MLH1 and PMS2 proteins at the same time;3 cases lost MSH2 and MSH6 at the same time.The total expression loss rates of four MMR proteins was 84.62%.Conclusion The suspected HNPCC cases in the Yunnan region had loss of expression of the MMR（MLH1,MSH2,PMS2,MSH6）.The immunohistochemical detection of MMR proteins can be used as an effective technique in screening HNPCC pedigrees.