ArticleJCO precision oncology2024
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice.
Article in JCO precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Neoadjuvant immune checkpoint inhibitors for localized dMMR/MSI-H gastric cancer: a meta-analysis.ESMO open · 2026Pooled it
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Exploring the improvement effect of intestinal network monitoring system on intestinal preparation quality of colonoscopy.World journal of gastrointestinal oncology · 2025Article
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Exploring the potential value of SRC in pan cancer based on bioinformatics methods.Discover oncology · 2025Article
- Microsatellite Instability in the Tumor Microenvironment: The Role of Inflammation and the Microbiome.Cancer medicine · 2025Review
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- A brief review of Lynch syndrome: understanding the dual cancer risk between endometrial and colorectal cancer.Oncology reviews · 2025Review
- Characterization of shared neoantigens landscape in Mismatch Repair Deficient Endometrial Cancer.NPJ precision oncology · 2024Article
- Case report: Immunotherapy guided by molecular profiling of tumors: illustrative cases and literature review.Frontiers in medicine · 2024Article
Corrections and comments
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Authors and funding
22 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe pan-cancer presence of microsatellite instability (MSI)-positive tumors demonstrates its clinical utility as an agnostic biomarker for identifying immunotherapy-eligible patients. Additionally, MSI is a hallmark of Lynch syndrome (LS), the most prevalent cancer susceptibility syndrome among patients with colorectal and endometrial cancer. Therefore, MSI-high results should inform germline genetic testing for cancer-predisposing genes. However, in clinical practice, such analysis is frequently disregarded.
methodsA next-generation sequencing (NGS)-based technique was used for MSI analysis in 4,553 patients with various tumor types. Upon request, somatic
resultsThe MSI positivity rate for the entire cohort was 5.27%. Endometrial, gastric, colorectal, urinary tract, and prostate cancers showed the highest proportion of MSI-high cases (15.69%, 8.54%, 7.40%, 4.55%, and 3.19%, respectively). A minority of 45 patients (22.73%) among the MSI-high cases underwent germline testing to determine whether the mismatch repair pathway deficiency was inherited. 24.44% of those who performed the genetic test carried a pathogenic variant in an LS-associated gene. Three MSI-high individuals had non-LS gene alterations, including
conclusionAlthough MSI analysis is routinely performed in clinical practice, as many as 77% of MSI-high patients do not undergo LS genetic testing, despite international guidelines strongly recommending it.
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