ArticleThe Journal of molecular diagnostics : JMD2019
A Novel Next-Generation Sequencing Approach to Detecting Microsatellite Instability and Pan-Tumor Characterization of 1000 Microsatellite Instability-High Cases in 67,000 Patient Samples.
Article in The Journal of molecular diagnostics : JMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
137 citing papers in PubMed, 1 synthesis or guideline pooled it, 216 citations in OpenAlex.
- Research landscape, thematic evolution, and translational insights of immune checkpoint inhibitor-induced colitis: a bibliometric analysis (2006-2025).Frontiers in immunology · 2026Pooled it
- Mismatch repair deficiency, next-generation sequencing-based microsatellite instability, and tumor mutational burden as predictive biomarkers for immune checkpoint inhibitor effectiveness in frontline treatment of advanced stage endometrial cancer.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023Trial
- Atezolizumab with enzalutamide versus enzalutamide alone in metastatic castration-resistant prostate cancer: a randomized phase 3 trial.Nature medicine · 2022Trial
- Urine Tumor DNA Testing Identifies Recurrence and Monitors Therapy Response in Patients With High-Risk Nonmuscle-Invasive Bladder Cancer Receiving Intravesical Bacillus Calmette-Guérin.The Journal of urology · 2026Article
- Incidence ofOncotarget · 2026Article
- Molecular characterization of mismatch repair deficient tumors in young Jordanian patients.Discover oncology · 2026Article
- Genomic landscape and therapeutic implications of Anaplastic Lymphoma Kinase fusion-positive colorectal cancer.The oncologist · 2026Article
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- Ultra-high tumor mutation burden breast cancer: genomic profiling and real-world immunotherapy results.NPJ breast cancer · 2026Article
- Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study.Dermatopathology (Basel, Switzerland) · 2026Article
- Homologous recombination deficiency and genomic alterations in advanced prostate cancer: insights for precision therapy.The oncologist · 2026Article
- Intimal sarcomas (ISarc) of the cardiac chambers (CC) of the heart and great vessels (GV): a comprehensive genomic profiling (CGP) study.Cardio-oncology (London, England) · 2026Article
- SDrecall: a sensitive approach for variant detection in segmental duplications.Genome biology · 2026Article
- CharacterizingCancers · 2026Article
- Molecular characteristics of Chinese colorectal cancer patients with microsatellite instability.Translational gastroenterology and hepatology · 2026Article
- Navigating the future of fertility preservation: advanced predictive strategies for treatment outcomes of endometrial atypical hyperplasia and carcinoma.Journal of gynecologic oncology · 2025Review
- Microsatellite instability and PD-L1 expression in sarcomas: current evidence and clinical perspectives.Medical oncology (Northwood, London, England) · 2025Review
- Article
- Effectiveness and safety of pembrolizumab for the treatment of Japanese patients with microsatellite instability-high tumors excluding colorectal cancer: a post-marketing surveillance.Japanese journal of clinical oncology · 2025Observational
- Article
77 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellite instability (MSI) is an important biomarker for predicting response to immune checkpoint inhibitor therapy, as emphasized by the recent checkpoint inhibitor approval for MSI-high (MSI-H) solid tumors. Herein, we describe and validate a novel method for determining MSI status from a next-generation sequencing comprehensive genomic profiling assay using formalin-fixed, paraffin-embedded samples. This method is 97% (65/67) concordant with current standards, PCR and immunohistochemistry. We further apply this method to >67,000 patient tumor samples to identify genes and pathways that are enriched in MSI-stable or MSI-H tumor groups. Data show that although rare in tumors other than colorectal and endometrial carcinomas, MSI-H samples are present in many tumor types. Furthermore, the large sample set revealed that MSI-H tumors selectively share alterations in genes across multiple common pathways, including WNT, phosphatidylinositol 3-kinase, and NOTCH. Last, MSI is sufficient, but not necessary, for a tumor to have elevated tumor mutation burden. Therefore, MSI can be determined from comprehensive genomic profiling with high accuracy, allowing for efficient MSI-H detection across all tumor types, especially those in which routine use of immunohistochemistry or PCR-based assays would be impractical because of a rare incidence of MSI. MSI-H tumors are enriched in alterations in specific signaling pathways, providing a rationale for investigating directed immune checkpoint inhibitor therapies in combination with pathway-targeted therapies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.