散发性结直肠癌和林奇综合征微卫星不稳定性患者MMR缺失检测的意义

Significance of MMR Deletion Detection in Patients with Sporadic Colorectal Cancer and Lynch Syndrome with Microsatellite Instability

目的:对散发性结直肠癌和林奇综合征(LS)微卫星不稳定性患者行错配修复基因(MMR)蛋白表达缺失检测,进一步探讨分析MMR缺失的散发性结直肠癌和林奇综合征微卫星不稳定性患者临床病理特征及预后。方法:收集笔者所在医院2013年1月-2015年12月收治的散发性结直肠癌且符合LS微卫星不稳定性高危病例条件的患者100例,行MMR蛋白表达缺失检测,并分为MMR缺失组和MMR未缺失组,统计分析两组临床病理参数、总生存时间、无病生存时间。结果:依据MMR蛋白表达缺失检测结果分为MMR缺失组(n=10)和MMR未缺失组(n=90)。MMR缺失组年龄低于MMR未缺失组,差异有统计学意义(P<0.05),两组性别、体质量、吸烟史、饮酒史等一般资料比较差异无统计学意义(P>0.05)。MMR缺失组肿瘤直径<6 cm比例低于MMR未缺失组,≥6 cm比例高于MMR未缺失组,差异均有统计学意义(P<0.05);MMR缺失组左半结肠肿瘤比例高于MMR未缺失组,直肠肿瘤比例低于MMR未缺失组,差异均有统计学意义(P<0.05);MMR缺失组腺癌肿瘤比例低于MMR未缺失组,腺癌伴黏液分泌、黏液腺癌比例均高于MMR未缺失组,差异均有统计学意义(P<0.05);MMR缺失组中分化比例低于MMR未缺失组,低分化比例高于MMR未缺失组,差异均有统计学意义(P<0.05);两组大体分型、浸润深度比较差异无统计学意义(P>0.05)。MMR缺失组总生存时间、无病生存时间<3年比例均高于MMR未缺失组,≥3年比例均低于MMR未缺失组,差异均有统计学意义(P<0.05)。MMR缺失组各项生活质量评分均高于MMR未缺失组,差异均有统计学意义(P<0.05)。结论:结直肠癌MMR缺失与未缺失的临床病理特征及预后差异显著,故MMR蛋白表达缺失检测可以指导判断散发性结直肠癌和林奇综合征微卫星不稳定性患者的预后。

Objective:The mismatch repair gene(MMR)protein expression deletion test is performed in patients with sporadic colorectal cancer and Lynch syndrome(LS)microsatellite instability to further investigate and analyze the clinicopathological characteristics and prognosis of patients with sporadic colorectal cancer and LS microsatellite instability.Method:A total of 100 patients with sporadic colorectal cancer and meeting the conditions of high-risk cases of LS microsatellite instability admitted to our hospital from January 2013 to December 2015 were collected,and MMR protein expression was detected.They were divided into the MMR deletion group and the MMR non-deletion group.The clinicopathological parameters,total survival time and disease-free survival time of the two groups were statistically analyzed.Result:According to the detection results of MMR protein expression deletion,they were divided into the MMR deletion group(n=10)and the MMR non-deletion group(n=90).The age in the MMR deletion group was lower than that of the MMR non-deletion group,the difference was statistically significant(P<0.05).There were no statistically significant differences in general data such as gender,body mass,smoking history and drinking history between the two groups(P>0.05).The proportion of tumor diameter<6 cm in the MMR deletion group was lower than that in the MMR non-deletion group,and the proportion of tumor diameter≥6 cm in the MMR deletion group was higher than that in the MMR non-deletion group,the differences were statistically significant(P<0.05).The proportion of left hemicolor tumors in the MMR deletion group was higher than that in the MMR non-deletion group,and the proportion of rectal tumors was lower than that in the MMR non-deletion group,the differences were statistically significant(P<0.05).The proportion of adenocarcinoma in the MMR deletion group was lower than that in the MMR non-deletion group,and the proportion of adenocarcinoma with mucous secretion and mucinous adenocarcinoma were both higher than those in the MMR non-deletion group,the differences were statistically significant(P<0.05).The proportion of medium differentiation in the MMR deletion group was lower than that in the MMR non-deletion group,and the proportion of inferior differentiation ratio in the MMR deletion group was higher than that in the MMR non-deletion group,the differences were statistically significant(P<0.05).There was no statistically significant difference in gross typing and infiltration depth between the two groups(P>0.05).The proportion of total survival time and disease-free survival time<3 years in the MMR deletion group was higher than that in the MMR non-deletion group,and proportion of≥3 years in the MMR deletion group was lower than that in the MMR non-deletion group,the differences were statistically significant(P<0.05).The quality of life scores in the MMR deletion group were higher than those in the MMR non-deletion group,the differences were statistically significant(P<0.05).Conclusion:There are significant differences in clinicopathological features and prognosis between colorectal cancer patients with MMR deletion and those without MMR deletion.Therefore,the detection of MMR protein deletion can guide the prognosis of patients with sporadic colorectal cancer and Lynch syndrome with microsatellite instability.