ArticleNPJ precision oncology2025
Applying next-generation sequencing to detect microsatellite instability in pan-cancer patients: a retrospective study of 35,563 Chinese cases.
Article in NPJ precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Analysis of Somatic Mutations and Immunotherapy Biomarkers in Chinese Patients With Non-Small Cell Lung Cancer During 2019-2024: A Retrospective Study.Health science reports · 2026Article
- Efficacy and safety of immune checkpoint inhibitors in patients with high microsatellite instability/mismatch repair-deficient advanced cholangiocarcinoma: A propensity score-matched study.JHEP reports : innovation in hepatology · 2026Article
- Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.Biomedicines · 2025Review
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Authors and funding
10 authors.
Funding
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Abstract
Microsatellite instability (MSI) serves as an important therapeutic and prognostic marker. Immunohistochemistry (IHC) and polymerase chain reaction (PCR) have long been regarded as the "gold standard" for MSI detection. In recent years, next-generation sequencing (NGS)-based methods, offering expanded target coverage of microsatellite (MS) loci and improved analytical performance, have gained widespread acceptance. However, discrepancies between NGS and traditional methods have been occasionally reported. In this study, we conducted a large-scale retrospective analysis of MSI results of 35,563 Chinese pan-cancer cases which underwent a NGS test in a central clinical laboratory. Our work introduced a novel algorithm for NGS-based MSI detection, examined MSI-H prevalence and value distribution across cancer types, identifies MSI-associated genes and variants, evaluates the MSI detection discordance between PCR and NGS in a pan-cancer context, and distilled 7 MS loci suitable for pan-cancer MSI detection.
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Registered trials
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