MMR蛋白免疫组化和微卫星不稳定性检测在Lynch综合征筛查中的研究  

MMR proteins expression and microsatellite instability in patients with Lynch syndrome

作　　者：杨雄华 眭玉霞[2] 王丽萍[3] 陈志忠[3] 陈灵锋[3] 晋龙[3] YANG Xiong-hua;SUI Yu-xia;WANG Li-ping;CHEN Zhi-zhong;CHEN Ling-feng;JIN Long(Department of Pathology,Wuyishan City Hospital,Wuyishan 354300,China;Departments of Pharmacy,3.Pathology,Fujian Municipal Hospital,Fuzhou 350001,China)

机构地区：[1]武夷山市立医院病理科,福建武夷山354300 [2]福建医科大学省立临床医学院,福建省立医院药学部,福州350001 [3]福建医科大学省立临床医学院,福建省立医院病理科,福州350001

出　　处：《诊断病理学杂志》2018年第8期571-575,共5页Chinese Journal of Diagnostic Pathology

基　　金：福建省自然科学基金(2015J01424);福建省立医院院内优秀青年基金(2014074)

摘　　要：目的观察符合临床诊断标准的Lynch综合征患者MMR蛋白缺失和微卫星不稳定性(MSI)的情况,探讨免疫组化和MSI检测在筛选Lynch综合征中的临床指导意义。方法选取经过临床病史和病理诊断证实符合Amsterdam标准和Bethesda指南的结直肠癌26例为研究组,另取15例散发性结直肠癌为对照组,免疫组化方法检测4种MMR蛋白(MLH1、MSH2、MSH6和PMS2)表达情况,同时行多重荧光PCR-毛细管电泳技术进行MSI检测。结果 MMR蛋白在研究组中表达缺失率为88.5%(23/26);15例散发性结直肠癌中未发现MMR蛋白缺失;MSI在研究组中检测到MSI-H 24例,MSS 2例,15例散发性结直肠癌中检测到MSI-H 1例,MSI-L 3例,MSS 11例。结论应用免疫组化和MSI检测都可以筛查Lynch综合征。免疫组化检测筛查敏感性和特异性较强,并且能有效的检测出突变蛋白的类型,使用方法简便、经济、快捷并且相对稳定,可以广泛应用于临床。Objective To observe the loss of MMR proteins expression and microsatellite instability in patients with Lynch syndrome who meet clinical diagnostic criteria,and to investigate the clinical significance of immunohistochemistry（ IHC） and MSI in the detection of Lynch syndrome.Methods Total 26 cases of colorectal cancer patients confirmed by clinical history and pathological diagnosis were selected as the study group.Another 15 patients with sporadic colorectal cancer were the control group.The expression of four MMR proteins（ MLH1,MSH2,MSH6 and PMS2） was detected by immunohistochemical staining and MSI was detected by multiplex fluorescence PCR-capillary electrophoresis.Results The negative staining rate of MMR protein in the study group was 88.46%（ 23/26）.We did not find MMR protein expression in 15 cases of sporadic colorectal cancer.PCR detected 24 cases of MSI-H and 2 cases of MSS in the study group,and 1 case of MSI-H,3 cases of MSI-L and 11 cases of MSS in 15 cases of sporadic colorectal cancer.Conclusion Lynch syndrome can be detected by both immunohistochemistry and MSI.Immunohistochemical technology is higher sensitivity and specificity,and it can effectively detect the type of mutant protein.IHC can be widely used in clinical practise because of simple,economical,fast,and relatively stable results.

关 键 词：LYNCH综合征 结直肠肿瘤 错配修复 免疫组化 MMR MSI 

分 类 号：R735.3[医药卫生—肿瘤]