ArticleScientific reports2021
Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer.
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 84 papers, 3 of them syntheses that pooled it.
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Who cites it
84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 131 citations in OpenAlex.
- FDG-PET/CT Parameters for distinguishing high and low microsatellite instability in colorectal cancer: A systematic review and Meta-analysis.Annals of nuclear medicine · 2026Pooled it
- Refining the TCGA Framework: The Pivotal Role of Targeted Next-Generation Sequencing in Resolving Diagnostic Ambiguities in Endometrial Cancer-Systematic Review.International journal of molecular sciences · 2026Pooled it
- EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.European journal of human genetics : EJHG · 2026Guideline
- Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India.Familial cancer · 2026Article
- Molecular subtypes and survival patterns of endometrial cancer in a South Indian cohort.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Review
- Instability in Pentanucleotide Markers in a Subset of Microsatellite Instability-High Colorectal Cancer.Current oncology (Toronto, Ont.) · 2026Article
- Prognostic Stratification of Multiple-Classifier Endometrial Cancers: Cohort Study and Meta-Analysis.Cancers · 2026Article
- Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.Targeted oncology · 2026Article
- Molecular Profiling of Germline Variants in the DNA Mismatch Repair Genes in Chinese Colorectal Cancer Patients.Genetics research · 2026Article
- Molecular classification of endometrial carcinoma: clinical utility of an NGS panel with targeted detection of 116 cancer-related genes.Pathology oncology research : POR · 2026Article
- Development and Internal Validation of a Nomogram for Predicting Recurrence in Endometrial Cancer Based on Pathological and Histological Indicators.Cancer management and research · 2026Article
- Improving the performance of polymerase chain reaction for microsatellite instability testing in endometrial cancer.Scientific reports · 2025Article
- Mismatch Repair Deficiency in Gliomas: A Rare Insight into Microsatellite Instability and Its Diagnostic Implications.Asian journal of neurosurgery · 2025Article
- Prevalence of DNA Mismatch Repair Deficiencies in Multiple Solid Tumor Types in China.Journal of evidence-based medicine · 2025Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Article
- Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.International journal of molecular sciences · 2025Article
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- Epidemiology, pathogenesis, biology and evolving management of MSI-H/dMMR cancers.Nature reviews. Clinical oncology · 2025Review
24 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA mismatch repair deficiency (dMMR) testing is crucial for diagnosing Lynch syndrome and detection of microsatellite unstable (MSI) tumors eligible for immunotherapy. The aim of this study was to compare the relative diagnostic performance of three molecular MSI assays: polymerase chain reaction (PCR), MSI testing by Idylla and next-generation-sequencing (NGS) on 49 tumor samples (28 colorectal and 21 endometrial adenocarcinomas) versus immunohistochemistry (IHC). Discrepancies were investigated by MLH1 methylation analysis and integrated with germline results if available. Overall, the molecular assays achieved equivalent diagnostic performance for MSI detection with area under the ROC curves (AUC) of respectively 0.91 for Idylla and PCR, and 0.93 for NGS. In colorectal cancers with tumor cell percentages ≥ 30% all three molecular assays achieved 100% sensitivity and specificity (AUC = 1) versus IHC. Also, in endometrial cancers, all three molecular assays showed equivalent diagnostic performance, albeit at a clearly lower sensitivity ranging from 58% for Idylla to 75% for NGS, corresponding to negative predictive values from 78 to 86%. PCR, Idylla and NGS show similar diagnostic performance for dMMR detection in colorectal and endometrial cancers. Molecular MSI analysis has lower sensitivity for dMMR detection in endometrial cancer indicating that combined use of both IHC and molecular methods is recommended.Clinical Trial Number/IRB: B1172020000040, Ethical Committee, AZ Delta General Hospital.
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