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

doi:10.3969/j.issn.1673-8640.2025.12.015

Abstract

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

CLC Number:

R446.1

BAO Wen. Application and prospect of microsatellite instability determination in tumor diagnosis and treatment[J]. Laboratory Medicine, 2025, 40(12): 1227-1231.

Figures/Tables 1

References 16

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名称	批准国家	方法	位点组合	预期用途
FoundationOne CDx	美国	NGS	95个MSI位点	帕博利珠单抗的伴随诊断
OncoMate MSI Dx Analysis System	美国	荧光PCR-毛细管电泳法	NR-21、BAT-25、BAT-26、Mono-27、 BAT-52、BAT-56、BAT-59、BAT-60	辅助诊断结直肠癌中的林奇综合征
微卫星不稳定（MSI）检测试剂盒	中国	多重荧光PCR-毛细管电泳法	BAT-25、BAT-26、D2S123、D5S346、D17S250、Penta C	辅助诊断结直肠癌中的林奇综合征
微卫星不稳定基因检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-25、BAT-26、NR-21、NR-24、 NR-27、MONO-27	辅助诊断结直肠癌中的林奇综合征
人类微卫星不稳定检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-25、BAT-26、NR-21、NR-24、NR-27、MONO-27、Amel、Penta C、Penta D	辅助诊断结直肠癌中的林奇综合征
人类微卫星不稳定性（MSI）检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-26、BAT-25、MONO-27、NR-24、CAT-25	替雷利珠单抗的伴随诊断
VENTANA MMR RxDx Panel	美国	免疫组化法	MLH1、PMS2、MSH2和MSH6	抗PD-1单抗药物JEMPERL1的伴随诊断
BOND MMR Antibody Panel	美国	免疫组化法	MLH1、PMS2、MSH2 和MSH6	辅助诊断结直肠癌中的林奇综合征

名称	批准国家	方法	位点组合	预期用途
FoundationOne CDx	美国	NGS	95个MSI位点	帕博利珠单抗的伴随诊断
OncoMate MSI Dx Analysis System	美国	荧光PCR-毛细管电泳法	NR-21、BAT-25、BAT-26、Mono-27、 BAT-52、BAT-56、BAT-59、BAT-60	辅助诊断结直肠癌中的林奇综合征
微卫星不稳定（MSI）检测试剂盒	中国	多重荧光PCR-毛细管电泳法	BAT-25、BAT-26、D2S123、D5S346、D17S250、Penta C	辅助诊断结直肠癌中的林奇综合征
微卫星不稳定基因检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-25、BAT-26、NR-21、NR-24、 NR-27、MONO-27	辅助诊断结直肠癌中的林奇综合征
人类微卫星不稳定检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-25、BAT-26、NR-21、NR-24、NR-27、MONO-27、Amel、Penta C、Penta D	辅助诊断结直肠癌中的林奇综合征
人类微卫星不稳定性（MSI）检测试剂盒	中国	荧光PCR-毛细管电泳法	BAT-26、BAT-25、MONO-27、NR-24、CAT-25	替雷利珠单抗的伴随诊断
VENTANA MMR RxDx Panel	美国	免疫组化法	MLH1、PMS2、MSH2和MSH6	抗PD-1单抗药物JEMPERL1的伴随诊断
BOND MMR Antibody Panel	美国	免疫组化法	MLH1、PMS2、MSH2 和MSH6	辅助诊断结直肠癌中的林奇综合征