微卫星不稳定性
结直肠癌
中国
肿瘤科
癌症
实体瘤
医学
癌症研究
内科学
微卫星
生物
地理
遗传学
基因
等位基因
考古
出处
期刊:PubMed
日期:2019-10-23
卷期号:41 (10): 734-741
被引量:5
标识
DOI:10.3760/cma.j.issn.0253-3766.2019.10.003
摘要
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.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。.
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