结直肠癌及其他相关实体瘤微卫星不稳定性检测中国专家共识  

Consensus on the detection of microsatellite instability in colorectal cancer and other related solid tumors in China

作　　者：无 袁瑛[4] Yuan Ying(The Committee of Colorectal Cancer,Chinese Society of Clinical Oncology;Genetics Group of The Committee of Colorectal Cancer,China Anti-Cancer Association;Genetics Committee of The Committee of Colorectal Cancer,Chinese Medical Doctor Association)

机构地区：[1]中国临床肿瘤学会结直肠癌专家委员会 [2]中国抗癌协会大肠癌专业委员会遗传学组 [3]中国医师协会结直肠肿瘤专业委员会遗传专委会 [4]浙江大学医学院附属第二医院肿瘤内科,杭州310009

出　　处：《中华肿瘤杂志》2019年第10期734-741,共8页Chinese Journal of Oncology

基　　金：国家重点研发计划-NCRCC(2017YFC0908200).

摘　　要：微卫星不稳定(MSI)由DNA错配修复(MMR)蛋白功能缺陷导致,这一分子特征在结直肠癌和子宫内膜癌等相关实体瘤中具有重要的临床意义。目前,检测MSI状态的手段包括免疫组织化学检测MMR蛋白、PCR检测微卫星位点和基于二代测序平台的MSI算法。本共识针对MSI的定义、临床意义及其检测方法各自的优势与不足展开阐述和推荐。希望专家共识的制定可大力推动恶性肿瘤MSI状态普筛工作,提高临床医师对各种检测方法的认识,从而更加准确地解读检测结果,为患者提供更优质的临床服务。Microsatellite instability (MSI) which resulted from the deficiency of DNA mismatch repair (MMR), is an important clinical significance in the related solid tumors, such as colorectal cancer and endometrial cancer. There are several methods to detect MSI status, including immunohistochemistry for MMR protein, multiplex fluorescent polymerase chain reaction (PCR) for microsatellite site and MSI algorithm based on next generation sequencing (NGS). The consensus elaborates the definition and clinical significance of MSI as well as the advantages and disadvantages of the three detection methods. Through this expert consensus, we hope to promote the screening which based on MSI status in malignant tumors and improve the acknowledge of clinicians about various testing methods. Thereby, they could interpret the results more accurately and provide better clinical services to patients.

关 键 词：微卫星不稳定 结直肠肿瘤 免疫组化 二代测序 

分 类 号：R735.37[医药卫生—肿瘤]