子宫内膜癌MMR蛋白检测在筛选HNPCC家系中的作用

Detection of endometrial cancer MMR protein in screening HNPCC families

目的观察MLH1、MSH2、PMS2和MSH6蛋白在子宫内膜癌中的表达,探讨其在筛选遗传性非息肉病性大肠癌(hereditary nonpolyposis colortal cancer,HNPCC)家系中的作用。方法采用免疫组化SP法检测87例子宫内膜癌组织中MLH1、MSH2、PMS2和MSH6蛋白表达,分析四者表达与HNPCC发生的关系。结果 87例子宫内膜癌中MLH1、MSH2、PMS2和MSH6蛋白表达缺失率分别为12.64%(11/87)、2.30%(2/87)、16.09%(14/87)、6.90%(6/87),总的蛋白缺失率为29.89%(27/87),随访发现9例有癌症家族史,其中8例存在错配修复(mismatch repair,MMR)蛋白表达缺失。结论常规检测子宫内膜癌中MMR蛋白,有助于筛选HNPCC家系,尤其是小家系。

Purpose To evaluate the expression of MLH1, MSH2, PMS2 and MSH6 protein in endometrial cancer and to explore its role in the screening hereditary nonpolyposis colortal cancer （HNPCC）. Methods The expression of MLH1, MSH2, PMS2 and MSH6 proteins in 87 cases of endometrial cancer was detected by immunohistochemistry. Results In the 87 cases tumor, loss rates of the expression of MLH1, MSH2, PMS2 and MSH6 protein were 12.64% （ 11/87）, 2.30% （2/87）, 16.09% （14/87） and 6.90% （6/87）. The total loss rate of the four MMR protein expression was 29.89% （27/87）. There were 9 patients with a family history of cancer, in which 8 cases had the expression loss of MMR proteins. Conclusion The routine detection of MMR proteins in the endom-etrial cancer may contribute to screen the HNPCC families, especially small family.