中国人遗传性非息肉病性结直肠癌hMLH1/hMSH2表达及其临床意义

目的探讨hMLH1和hMSH2表达对于中国人遗传性非息肉病性结直肠癌(HNPCC)患者的临床意义。方法 利用免疫组织化学(免疫组化)的方法研究符合Amsterdam标准的22例典型HNPCC(Ⅰ组)、15例非典型HNPCC(Ⅱ组)、10例散发性结直肠癌(Ⅲ组)和10例良性疾病(Ⅳ组)患者的hMLH1和hMSH2表达情况。结果 hMLH1和(或)hMSH2表达缺失率在Ⅰ、Ⅱ、Ⅲ和Ⅳ组分别为64％、20％、10％和0;Ⅰ组与Ⅱ组、Ⅲ组相比,差异有显著性意义(P<0.05);而Ⅱ组与Ⅲ组之间相比,差异无显著性意义(P=0.513)。结论 免疫组化检测错配修复基因的表达可能成为HNPCC的一种简单、重要的分子生物学诊断方法。

Analyisis of the expression of the hMLH1/hMSH2 and its clinical significence in the patients with colorectal cancer in Chinese hereditary nonpolyposis colorectal cancer kindreds

Objective To detect the expression of hMLHl and hMSH2 in the patients with colorectal cancer in Chinese hereditary nonpolyposis colorectal cancer(HNPCC) kindreds and analyze its clinical significance. Methods The expression of hMLHl and hMSH2 were studied by immunohistochemistry in 22 cases with typical HNPCC, 15 cases with nontypical HNPCC, 10 cases with sporadic colorectal cancer and 10 cases with benign diseases. Results The rate of the loss of hMLHl and/or hMSH2 was 64% in HNPCC group, 20% in nontypical HNPCC group, 10% in sporadic colorectal cancer group and none of the cases with benign disease had the loss of the hMLHl and hMSH2. Conclusion In Chinese HNPCC, sixty-four percent cases were characterized by the loss of the hMLHl and/or hMSH2. The immunohistochemistry detection of the germline mutation of MMR may be a practical technique to diagnose of HNPCC.