ArticleCancer medicine2023
Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types.
Article in Cancer medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 12 citations in OpenAlex.
- Analysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma.Discover oncology · 2026Article
- Reference-Free Microsatellite Instability Detection from Tumor Sequencing Using Intrasample Variability Modeling.Computational and structural biotechnology journal · 2026Article
- Applying next-generation sequencing to detect microsatellite instability in pan-cancer patients: a retrospective study of 35,563 Chinese cases.NPJ precision oncology · 2025Article
- The Multifaceted Role of p53 in Cancer Molecular Biology: Insights for Precision Diagnosis and Therapeutic Breakthroughs.Biomolecules · 2025Review
- Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.International journal of molecular sciences · 2025Article
- Clinical and analytical validation of a combined RNA and DNA exome assay across a large tumor cohort.Communications medicine · 2025Article
- Deep Gaussian process with uncertainty estimation for microsatellite instability and immunotherapy response prediction from histology.NPJ digital medicine · 2025Article
- Comparative Analysis of Next-Generation Sequencing and Immunohistochemistry in MSI/MMR Testing.Turk patoloji dergisi · 2025Article
- Microsatellite instability and mismatch repair protein deficiency: equal predictive markers?Pathology oncology research : POR · 2024Review
- Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types.Cancer medicine · 2023Article
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8 authors at 1 institution in 1 country.
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Abstract
backgroundMicrosatellite instability (MSI) occurs in several cancer types and is commonly used for prognosis and as a predictive biomarker for immune checkpoint therapy.
methodsWe analyzed n = 263 formalin-fixed paraffin-embedded (FFPE) tumor specimens (127 colorectal cancer (CRC), 55 endometrial cancer (EC), 33 stomach adenocarcinoma (STAD), and 48 solid tumor specimens of other tumor types) with a capillary electrophoresis based multiplex monomorphic marker MSI-PCR panel and an amplicon-based NGS assay for microsatellite instability (MSI+). In total, n = 103 (39.2%) cases with a known defect of the DNA mismatch repair system (dMMR), determined by a loss in protein expression of MSH2/MSH6 (n = 48, 46.6%) or MLH1/PMS2 (n = 55, 53.4%), were selected. Cases with an isolated loss of MSH6 or PMS2 were excluded.
resultsThe overall sensitivity and specificity of the NGS assay in comparison with the MSI-PCR were 92.2% and 98.8%. With CRC cases a nearly optimal concordance was reached (sensitivity 98.1% and specificity 100.0%). Whereas EC cases only show a sensitivity of 88.6% and a specificity of 95.2%, caused by several cases with instability in less than five monomorphic markers, which could be difficult to analyze by NGS (subtle MSI+ phenotype).
conclusionsMSI analysis of FFPE DNA by NGS is feasible and the results show a high concordance in comparison with the monomorphic marker MSI-PCR. However, cases with a subtle MSI+ phenotype, most frequently manifest in EC, have a risk of a false-negative result by NGS and should be preferentially analyzed by capillary electrophoresis.
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