结直肠癌中错配修复蛋白hMLH1和hMSH2的表达及临床意义

目的分析hMLH1、hMSH2两种错配修复（MMR）蛋白在结直肠癌中的表达及其临床意义。方法应用EnVision免疫组化两步法检测80例结直肠癌中hMLH1、hMSH2的蛋白表达，并分析与临床、病理特征及家族史之间的关系。结果480例结直肠癌中，hMLH1表达缺失12例，占2．5％（12／480），hMSH2表达缺失23例，占4．8％（23／480），两者之和占所有结直肠癌病例的6．9％（33／480）。MMR蛋白表达缺失与患者年龄、肿瘤部位、分化程度、淋巴结转移、多原发肿瘤相关，而与患者性别、肿瘤大体类型、组织学类型、浸润深度、有无远处转移无明显相关性。hMLHl表达缺失12例中6例（50．0％）有肿瘤家族史，hMSH2表达缺失23例中8例（34．8％）有肿瘤家族史。结论部分结直肠癌患者中存在错配修复蛋白的表达缺失，且与肿瘤部位及分化程度、淋巴结有无转移及多原发肿瘤等病理特征密切相关，表明可为遗传性非息肉病性结直肠癌的筛选提供重要线索。

Object To investigate the expression of mismatch repair gene （ MMR ） hMLHI and hMSH2 in colorectal cancer and it＇ s clinical significance. Method The expressions of hMLHI and hMSH2 protein were examined in 480 colorectal cancer patients using EnVision immunohistochemistry, the relationship between expression and pathological feature were analysis using univariate analysis. Results The lost expression of MMR was found in 2.5% and 4.8% CRC respectively. There were significant relationship between the lost expression and some pathological feature such as patients＇ age, tumor site, tumor differentiation and lymph node metastasis and multi tumor （ P〈0.05 ） . There was no significant relationship between the lost MMR expression and patients＇ gender, tumor gross type, tumor size, invasive depth, distant metastasis （ P〉0.05 ） . There are 50.0% and 34.8% cases have family tumor history among the patients who loss expression ofhMLH1 and hMSH2 respectively. Condusion There are a subset of CRC loss expression of hMLH1 and hMSH2, and it＇ s significantly related with several pathological features. Analysis of the expression of MMR protein is an effective and simple method to screening HNPCC.