可疑的遗传性非息肉病性大肠癌hMLH1和hMSH2蛋白表达  

Expression of hMLH1 and hMSH2 in suspected hereditary non-polyposis colorectal cancer

作　　者：王瑜[1] 童晶[2] 杨磊[2] 丁彦青[2] 

机构地区：[1]南方医科大学珠江医院病理科,广州市510282 [2]南方医科大学病理学系,广州市510515

出　　处：《实用医学杂志》2014年第13期2061-2064,共4页The Journal of Practical Medicine

基　　金：广东省自然科学基金项目(编号:S2013010014872);广东省医学科研基金资助项目(编号:B2012238)

摘　　要：目的：分析可疑的遗传性非息肉病性结直肠癌（HNPCC）中错配修复蛋白（MMR）hMLH1和hMSH2的表达情况。方法：运用免疫组织化学染色方法检测193例可疑HNPCC中hMLH1／hMSH2蛋白。表达缺失的病例为高度可疑HNPCC。结果：193例可疑HNPCChMLH1／hMSH2表达缺失率为29．02％：不同年龄段依次为：≤30岁为40．00％，31～40岁为28．05％，41。50岁为28．71％：其中3例hMLH1和hMSH2同时表达缺失；在右半结肠、左半结肠和直肠表达缺失率分别为40．74％、32．65％和18．89％；有家族史的病例表达缺失率为46．15％。结论：MMR蛋白表达缺失与年龄、发病部位及家族史密切相关，并且以hMLH1表达缺失为主，MMR蛋白表达缺失是诱发青年大肠癌发生的重要因素；hMLH1／hMSH2蛋白同时表达缺失。说明二者可能协同作用HNPCC的发生。Objective To analyse the suspected hereditary non-polyposis colorectal cancer （HNPCC） in mismatch repair protein （MMR） expression of hMLH1 and hMSH2. Methods Immunohistochemical staining method was used for the detection of hMLH1 and hMSH2 protein expression in 193 cases suspected HNPCC patients, the deletion of MMR proteins was identified as highly suspected HNPCC cases. Results Of the 193 patients with suspected HNPCC hMLH1/hMSH2 abnormal expression rate was 29.02%; ≤ 30 years old was 40%, 31 - 40 years old was 28.05%, 41 ~ 50 years old was 28.71% ,3 suspected HNPCC showed the deletion of hMLH1/hMSH2 protein expression at the same time, ; In the right colon, the left half colon and rectal anomaly detection rates were 40.74%, 32.65%and 18.89% ; hMLH1/hMSH2 deletion was 46.15%with family history. Conclusions The deletion of MMR protein is closely related to age, site and family history in suspected HNPCC, and the deletion of hMLH1 is an important factor to induce early-set colorectal cancer. The deletion of hMLH1/ hMSH2 at the same time indicates that hMLH1/hMSH2 genes may play important role in the incidence of HNPCC.

关 键 词：结直肠肿瘤 错配修复蛋白 HMLH1 HMSH2 

分 类 号：R735.34[医药卫生—肿瘤]