MLH1、MSH2、MSH6和PMS2蛋白在结直肠癌中的表达及在Lynch综合征筛查中的意义

发布时间：2018-12-13 08:17

【摘要】：目的探讨错配修复(mismatch repair,MMR)蛋白MLH1、MSH2、MSH6和PMS2在结直肠癌中的表达及其临床意义。方法采用免疫组化En Vision两步法检测102例结直肠癌组织中MLH1、MSH2、MSH6和PMS2蛋白表达缺失情况,分析蛋白表达缺失与结直肠癌临床病理特征的关系,并对其中20例进行微卫星不稳定(microsatellite instability,MSI)检测。结果 102例结直肠癌有15例(14.7%)发生MMR蛋白表达缺失,MLH1、MSH2、MSH6、PMS2蛋白表达缺失率分别为12.7%(13/102)、3.9%(4/102)、4.9%(5/102)、10.8%(11/102)。结直肠癌标本中MLH1、MSH2、MSH6、PMS2的蛋白表达缺失与患者性别、年龄、肿瘤大小、浸润深度、淋巴结转移无关(P0.05);MLH1与PMS2蛋白表达缺失与组织学分化高低相关(P0.05)。进行MSI检测的10例MMR蛋白缺失病例中有2例(2.0%)为高频微卫星不稳定(microsatellite instability-high,MSI-H),其余8例为微卫星稳定(microsatellite stability,MSS);另10例无MMR蛋白缺失的病例微卫星状态均为低频微卫星不稳定(microsatellite instability-low,MSI-L)/MSS。结论免疫组化检测MLH1、MSH2、MSH6和PMS2的缺失可以用于Lynch综合征的初筛,对结直肠癌患者行MMR免疫组化检测和MSI联合检测可提高Lynch综合征的诊断率。
[Abstract]:Objective to investigate the expression and clinical significance of mismatch repair (mismatch repair,MMR) protein MLH1,MSH2,MSH6 and PMS2 in colorectal cancer. Methods the expression of MLH1,MSH2,MSH6 and PMS2 was detected by immunohistochemical En Vision two-step method in 102 cases of colorectal cancer. The relationship between the expression of MLH1,MSH2,MSH6 and PMS2 and the clinicopathological features of colorectal cancer was analyzed. Microsatellite instability (microsatellite instability,MSI) was detected in 20 of them. Results there were 15 (14.7%) cases of colorectal cancer with MMR protein deletion. The deletion rates of MLH1,MSH2,MSH6,PMS2 protein were 12.7% (13 / 102), 3.9% (4 / 102), 4.9% (5 / 102), respectively. 10.8% (11 / 102). The loss of MLH1,MSH2,MSH6,PMS2 protein expression in colorectal cancer was not related to sex, age, tumor size, depth of invasion and lymph node metastasis (P0.05). The loss of MLH1 and PMS2 protein expression was correlated with histological differentiation (P0.05). Of the 10 cases of MMR protein deletion detected by MSI, 2 (2.0%) were high frequency microsatellite instability (microsatellite instability-high,MSI-H) and 8 were microsatellite instability (microsatellite stability,MSS). In the other 10 cases without MMR protein deletion, the microsatellite status was low frequency microsatellite instability (microsatellite instability-low,MSI-L) / MSS.. Conclusion the deletion of MLH1,MSH2,MSH6 and PMS2 can be used in the screening of Lynch syndrome. The combined detection of MMR and MSI in colorectal cancer patients can improve the diagnosis rate of Lynch syndrome.
【作者单位】：南京中医药大学附属医院病理科;南京大学附属鼓楼医院肿瘤中心;
【基金】：江苏省高校优势学科建设工程资助(012062003010)
【分类号】：R735.34

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