结肠直肠癌错配修复蛋白表达与微卫星稳定性的一致性分析  

Consistency analysis of mismatch repair protein expression and microsatellite stability in colorectal cancer

作　　者：朱惠 蔡继东 李溟涵 杨文涛 徐烨 ZHU Hui;CAI Jidong;LI Minghan;YANG Wentao;XU Ye(Department of Outpatient,Fudan University Shanghai Cancer Center,Department of Oncology,Shanghai Medical Col-lege,Fudan University;Department of Endoscopy,Fudan University Shanghai Cancer Center,Department of Oncology,Shanghai Medical College,Fudan University;Department of Colorectal Surgery,Fudan University Shanghai Cancer Cen-ter,Department of Oncology,Shanghai Medical College,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属肿瘤医院门诊部,复旦大学上海医学院肿瘤学系,上海200032 [2]复旦大学附属肿瘤医院内镜科,复旦大学上海医学院肿瘤学系,上海200032 [3]复旦大学附属肿瘤医院大肠外科,复旦大学上海医学院肿瘤学系,上海200032

出　　处：《外科理论与实践》2024年第2期148-155,共8页Journal of Surgery Concepts & Practice

摘　　要：目的:探究免疫组织化学(IHC)检测错配修复(MMR)状态与二代测序(NGS)鉴定的微卫星不稳定性(MSI)的一致性,并评估其结果与中国结肠直肠癌(CRC)病人临床特征的相关性。方法:采用IHC和NGS测序分别鉴定CRC的MMR及MSI状态,评估不同检测方式的一致性。结果:IHC与NGS检测方式一致性为98.36%,一致性良好(Kappa=0.856)。pMMR/MSI-H亚型中存在一定的致病性或可能致病性胚系变异,dMMR/MSS亚型中MLH1和PMS2共同缺失最为常见。分型不一致的病人多集中于发病较早的右半结肠(P<0.01),且分化相对较差。结论:经IHC和NGS检测的MSI一致性很好,可高达98%以上。为避免因MSI状态误诊而影响临床医师对治疗方案的决策,对于分化较差的早期阶段右半结肠必须高度重视MSI分析的准确性。Objective To investigate the consistency between mismatch repair proyeins expressions detected by immunohistochemistry(IHC)and microsatellite instability(MSI)identified by next‑generation sequencing(NGS),and evaluate the correlation of these results with the clinical characteristics of Chinese colorectal cancer(CRC).Methods Using IHC and NGS to identify mismatch repair(MMR)and MSI status in CRC,and assessing the consistency between these different detection methods.Results The concordance rate of MSI status detected by IHC and NGS was 98.36%,indicating good agreement(Kappa=0.856).Certain pathogenic or likely pathogenic germline variants were present in the pMMR/MSI‑H subtype.The co‑deficiency of MLH1 and PMS2 was most common in the dMMR/MSS subtype.Patients with inconsistent typing were more likely to have early‑onset right‑sided colon cancer(P<0.01)and the tumor with relatively poor differentiation.Conclusions The consistency of MSI status detected by IHC and NGS is very high,98%or more.To avoid the misdiagnosis of MSI status affecting clinical decision‑making for treatment plans,it is imperative to ensure the accuracy of MSI analysis,particularly in poorly differentiated early‑stage right‑sided colon cancers.

关 键 词：结肠直肠癌 错配修复蛋白 微卫星不稳定性 二代测序 免疫组织化学 

分 类 号：R735.35[医药卫生—肿瘤] R735.37[医药卫生—临床医学]