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摘要:目的 探讨错配修复基因（mismatch repair gene，MMR）蛋白MLH1、MSH2、MSH6、PMS2在结直肠癌中的表达及在临床中的应用。方法 选取四川省人民医院2015年1月至2016年9月收治的607例结直肠癌患者，采用免疫组织化学法检测手术标本中MMR蛋白的表达情况，研究其与临床病理学的关系，并评价其在Lynch综合征和散发性结直肠癌筛查中的价值。结果 607例患者中MMR表达缺失率为35.58%。MMR蛋白表达缺失的阴性组与表达正常的阳性组，在年龄、性别、肿瘤大小、P53、CD34、D2-40的比较，差异均无统计学意义（P>0.05）；两组患者在肿瘤位置、分化程度、TNM分期、淋巴结转移、VEGF、Ki-67的比较，差异均有统计学意义（P < 0.05）。联合检测MLH1、MSH2、PSM2、MSH6蛋白可以作为初步筛选Lynch综合征患者的方法。结论 对结直肠癌患者的手术标本进行MMR检测，筛查Lynch综合征患者和家族成员，进行管理及干预，可降低部分人群患结直肠癌的风险。Abstract:Objective To investigate the expression and clinical significance of mismatch repair genes (MMR) MLH1, MSH2, MSH6, and PMS2 in colorectal carcinoma.Methods Colorectal cancer tissues, collected from 607 patients enrolled in Sichuan Provincial People's Hospital from January 2015 to September 2016, were assigned into two groups based on whether the samples were positive or negative for MMR expression to determine the relationship between MMR expression and clinicopathology. We then evaluated the diagnostic value of MMR expression in the screening of Lynch syndrome and sporadic colorectal cancer.Results The deletion rate of MMR protein was 35.58%. No statistically significant difference in age, sex, tumor size, P53, CD34, and D2-40 expression was detected between the negative group with MMR protein deficiency and the positive group with normal expression (P>0.05). Differences in tumor location, differentiation, TNM stage, lymph node metastasis, and VEGF and Ki-67 expression between the two groups were statistically significant (P < 0.05). The combined detection of MLH1, MSH2, PSM2, and MSH6 proteins may serve as a simple and economical method for screening patients with Lynch syndrome.Conclusions The risk of colorectal cancer can be reduced by MMR detection of surgical specimens from colorectal cancer patients, screening of patients with Lynch syndrome and their family members, and assisting with proper management and intervention.
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Keywords:
- mismatch repair gene (MMR) /
- colorectal cancer /
- Lynch syndrome /
- clinicopathology
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