ArticleScientific reports2021
Concordance analysis of microsatellite instability status between polymerase chain reaction based testing and next generation sequencing for solid tumors.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
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- Metabolic Syndrome Fuels Genomic Instability? Insights from a Pilot Study on Colorectal Cancer.Cancers · 2025Article
- Lead bioaccumulation in human breast cancer tissue is associated with DNA instability and cell death resistance.Cell death discovery · 2025Article
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- Gastrointestinal tumor personalized immunotherapy: an integrated analysis from molecular genetics to imaging biomarkers.Therapeutic advances in gastroenterology · 2025Review
- Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.JCO precision oncology · 2024Article
- Genomic analysis of bladder urothelial carcinoma with osteoclast‑like giant cells: A case report.Molecular and clinical oncology · 2024Article
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- Case report: Microsatellite instability determination is not always black and white in Lynch syndrome diagnosis.Frontiers in oncology · 2024Article
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Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Various malignancies exhibit high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR). The MSI-IVD kit, a polymerase chain reaction (PCR)-based method, was the first tumor-agnostic companion diagnostic to detect MSI status in MSI-H solid tumors. Recently, next-generation sequencing (NGS), which can also detect MSI-H/dMMR, has been made clinically available; however, its real-world concordance with PCR-based testing of MSI-H/dMMR remains to be investigated. The co-primary end points included the positive and negative predictive values of MSI-H/dMMR. A retrospective analysis of 80 patients who had undergone both MSI testing and NGS between July 2015 and March 2021 was conducted. Five patients were confirmed to have MSI-H in both examinations. Among the 75 patients diagnosed as microsatellite stable (MSS) by PCR-based testing, one with pancreatic cancer was diagnosed as having MSI-H after NGS. One patient with pancreatic cancer was diagnosed as having MSS in both tests was found to have a mutation in MLH1 by NGS, which was confirmed as dMMR by IHC staining. NGS had positive and negative predictive values of 100% (5/5) and 98.7% (74/75), respectively, for MSI-H. The concordance between NGS and PCR-based testing was 98.8% (79/80). Thus, NGS can be useful for evaluating MSI/MMR status in clinical practice and can be an important alternative method for detecting MSI-H/dMMR in the future.
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