子宫内膜癌组织错配修复基因MMR表达及其临床意义

目的:通过检测子宫内膜癌组织错配修复(MMR)蛋白表达缺失情况,探讨错配修复基因在子宫内膜癌中的临床意义。方法:回顾分析北京大学人民医院2018年5月至2019年7月收治的101例子宫内膜癌患者的完整临床病理资料。免疫组化法分析子宫内膜癌组织中MMR蛋白(MSH2、MSH6、MLH1、PMS2)及ER、PR、Ki67表达情况。结果:101例子宫内膜癌中MMR、MSH2、MSH6、MLH1、PMS2蛋白表达缺失率分别为40.6%(41/101)、8.9%(9/101)、10.9%(11/101)、14.9%(15/101)、31.7%(32/101)。MLHl/PSM2及MSH2/MSH6联合缺失率分别为13.9%(14/101)及4.0%(4/101)。BMI<24kg/m^2与MSH2表达缺失相关(P<0.05),24kg/m^2≤BMI<28kg/m^2与PMS2表达缺失相关(P<0.05);内科合并症(高血压病、糖尿病等)与MLH1表达缺失相关(8.2%vs 24.3%,P<0.05)。肌层浸润深度≥1/2与MMR、MSH6、MLH1及PMS2表达缺失相关(P<0.01)。肿瘤直径≥2cm与MMR及PMS2表达缺失相关(P<0.01)。结论:MMR蛋白表达缺失与预后不良相关。肿瘤组织MMR蛋白尤其是MLH1/PMS2检测有助于识别预后不良患者,特别是Lynch综合评估后进行辅助治疗,有助于改善预后。

Expression and clinical significance of mismatch repair gene MMR in endometrial carcinoma

Objective:To investigate the clinical significance of mismatch repair gene in endometrial carcinoma,to analyze the relationship between mismatched repair gene and clinicopathological features of endometrial carcinoma.Methods:The clinicopathological data of 101 patients with endometrial carcinoma admitted to Peking University people’s Hospital from May 2018 to July 2019 were analyzed retrospectively.The expressions of MMR protein(MSH2,MSH6,MLH1,PMS2) and estrogen receptor(ER),progesterone receptor(PR),antigen Ki67(Ki67) in endometrial carcinoma were analyzed by immunohistochemistry.Results:The deletion rates of MMR,MSH2,MSH6,MLH1 and PMS2 expression were 40.6%(41/101),8.9%(9/101),10.9%(11/101),14.9%(15/101) and 31.7%(32/101) respectively.The combined deletion rates of MLH1/PSM2 and MSH2/MSH6 were 13.9%(14/101) and 4.0%(4/101) respectively.The relationship between MMR expression loss and clinical features was:BMI<24 kg/m^2 was correlated with MSH2 expression deletion,24 kg/m^2≤BMI<28 kg/m^2 was correlated with PMS2 expression deletion(P<0.05),and internal complications(hypertension and diabetes mellitus) were correlated with MLH1 expression deletion(8.2% vs 24.3%,P<0.05).The relationship between the loss of MMR expression and pathological features:the depth of muscle invasion ≥1/2 was correlated with the loss of MMR,MSH6,MLH1 and PMS2 expression(P<0.01).Tumor diameter ≥2 cm was associated with loss of MMR and PMS2 expression.Conclusion:The loss of MMR protein expression is related to the clinicopathological factors of poor prognosis.The detection of MMR protein,especially MLH1/PMS2,is helpful to identify patients with poor prognosis,especially to improve the outcome of patients with poor prognosis,especially after the comprehensive evaluation of Lynch syndrome.