微卫星不稳定性检测在结直肠外科的应用及其临床意义  

Application and clinical significance of microsatellite instability detection in colorectal surgery

作　　者：蒋松松 陈刚[1] JIANG Songsong;CHEN Gang(Department of General Surgery,Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院结直肠外科,江苏南京210008

出　　处：《中国肿瘤外科杂志》2022年第5期498-503,共6页Chinese Journal of Surgical Oncology

基　　金：国家临床重点专科项目(卫办医政函[2012]649号)。

摘　　要：结直肠癌中约15%患者存在基因组微卫星高度不稳定(MSI-H),最新的美国国立综合癌症网络与中国临床肿瘤学会指南均推荐所有结直肠癌患者都要进行微卫星不稳定(MSI)检测以判断预后,并可以用于林奇综合征的诊断与筛查;早发性结直肠癌患者的MSI-H频率更高,且好发于近端结肠(右半结肠),所以临床上对于年轻的结直肠癌患者,尤其是右半结肠癌患者,更应该重视MSI的检测。MSI-H的结直肠癌患者预后更好,免疫治疗对于MSI-H的结直肠癌疗效显著,目前国内外指南均建议MSI-H的结直肠癌全线推荐免疫治疗,但是MSI-H的误诊可能导致免疫一线治疗患者疾病进展,所以结直肠外科医师需要积极探索新的错配修复基因通路蛋白、微卫星不稳定性的检测位点及新的检测方式,以提高诊断准确率。About 15%of patients with colorectal cancer have high microsatellite instability(MSI-H).The latest NCCN and CSCO guidelines recommend that all patients with colorectal cancer should be tested for microsatellite instability to judge the prognosis,and be used for the diagnosis and screening of Lynch syndrome(LS).The MSI-H frequency of patients with early-onset colorectal cancer is higher which tends to occur in the proximal colon(right colon).Therefore,for young colorectal cancer patients,especially patients with right colon cancer,more attention should be paid to the detection of microsatellite instability.The prognosis of colorectal cancer patients with MSI-H is better,and immunotherapy has a significant effect on colorectal cancer with MSI-H.At present,domestic and international guidelines recommend immunotherapy for colorectal cancer with MSI-H.However,the misdiagnosis of MSI-H may lead to disease progression in patients receiving first-line immunotherapy.Therefore,colorectal surgeons need to actively explore new detection sites and methods for mismatch repair gene pathway proteins and microsatellite instability in order to improve the diagnostic accuracy.

关 键 词：微卫星不稳定 结直肠癌 治疗 预后 林奇综合征 

分 类 号：R735.34[医药卫生—肿瘤]