检验医学 ›› 2025, Vol. 40 ›› Issue (12): 1227-1231.DOI: 10.3969/j.issn.1673-8640.2025.12.015

• 综述与讲座 • 上一篇    下一篇

微卫星不稳定性检测在肿瘤诊疗中的应用进展

包雯   

  1. 国家药品监督管理局医疗器械技术审评中心,北京 100076
  • 收稿日期:2024-08-12 修回日期:2025-06-10 出版日期:2025-12-30 发布日期:2025-12-26
  • 作者简介:包 雯,女,1987年生,硕士,副主任技师,主要从事临床检验设备和试剂的技术评审工作。

Application and prospect of microsatellite instability determination in tumor diagnosis and treatment

BAO Wen   

  1. Center for Medical Device Evaluation,National Medical Products Administration,Beijing 100076,China
  • Received:2024-08-12 Revised:2025-06-10 Online:2025-12-30 Published:2025-12-26

摘要:

微卫星不稳定性(MSI)是指与正常组织相比,肿瘤中的微卫星位点因重复单位的插入或缺失而造成的长度改变,是由DNA错配修复缺陷相关基因发生突变造成的微卫星等位基因的状态。随着MSI检测技术的发展,该项检测可用于林奇综合征的筛查、肿瘤的诊断和治疗,以及结直肠癌的预后分层,有助于尽早发现 DNA 错配修复功能缺陷特征的结直肠癌患者和MSI成人晚期实体瘤患者的用药指导。文章就MSI检测在肿瘤诊断和治疗中的应用进行综述。

关键词: 微卫星不稳定性, 林奇综合征, 肿瘤

Abstract:

Microsatellite instability(MSI) refers to the length alteration of microsatellite loci in tumors compared with normal tissues due to the insertion or deletion of repeat units,which is caused by mutations in DNA mismatch repair-related genes and represents the state of microsatellite alleles. With the development of MSI determination technologies,the determination can be used for screening Lynch syndrome,diagnosing and treating tumors,or stratifying the prognosis of colorectal cancer. It helps to identify colorectal cancer patients with DNA mismatch repair deficiency features as early as possible and provide medication guidance for adult advanced solid tumors with MSI. This review focuses on the application and prospects of MSI determination in tumor diagnosis and treatment.

Key words: Microsatellite instability, Lynch syndrome, Tumor

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