ArticleJCO precision oncology2022
Clinical Validity of Plasma-Based Genotyping for Microsatellite Instability Assessment in Advanced GI Cancers: SCRUM-Japan GOZILA Substudy.
Article in JCO precision oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 23 citations in OpenAlex.
- Towards liquid biopsy-based analysis of antitumour immunity.Nature reviews. Clinical oncology · 2026Review
- Review
- Biomarkers for predicting and monitoring the efficacy of cancer vaccines.Frontiers in oncology · 2026Review
- Diagnostic Challenges and Clinical Implications of Microsatellite Instability/Mismatch Repair Deficiency in Solid Tumors.Cancer research and treatment · 2026Review
- Single-center Experience with Comprehensive Genomic Profiling Using Circulating Tumor DNA for Metastatic Colorectal Cancer.Journal of the anus, rectum and colon · 2026Article
- Clinical applications of cell-free DNA-based liquid biopsy analysis.Translational oncology · 2025Article
- Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy.Pathologica · 2025Review
- Benefits of Combining Circulating Tumor DNA With Tissue and Longitudinal Circulating Tumor DNA Genotyping in Advanced Solid Tumors: SCRUM-Japan MONSTAR-SCREEN-1 Study.JCO precision oncology · 2025Article
- scMSI: Accurately inferring the sub-clonal Micro-Satellite status by an integrated deconvolution model on length spectrum.PLoS computational biology · 2024Article
- Article
- Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.Nature communications · 2024Article
- Microsatellite instability: A 2024 update.Cancer science · 2024Review
- Identification of an optimal mutant allele frequency to detect activatingJournal of gastrointestinal oncology · 2023Article
- Clinical Validation of Plasma-Based Genotyping forJCO precision oncology · 2023Article
- Utilizing Plasma Circulating Tumor DNA Sequencing for Precision Medicine in the Management of Solid Cancers.Cancer research and treatment · 2023Article
- Implementation of microsatellite instability testing for the assessment of solid tumors in clinical practice.Cancer medicine · 2023Article
- Current Strategy to Treat Immunogenic Gastrointestinal Cancers: Perspectives for a New Era.Cells · 2023Review
- Expert panel consensus recommendations on the use of circulating tumor DNA assays for patients with advanced solid tumors.Cancer science · 2022Review
- Clinical applications of circulating tumor-derived DNA in the management of gastrointestinal cancers - current evidence and future directions.Frontiers in oncology · 2022Review
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Authors and funding
34 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCirculating tumor DNA (ctDNA) genotyping may guide targeted therapy for patients with advanced GI cancers. However, no studies have validated ctDNA genotyping for microsatellite instability (MSI) assessment in comparison with a tissue-based standard. PATIENTS AND
methodsThe performance of plasma-based MSI assessment using Guardant360, a next-generation sequencing-based ctDNA assay, was compared with that of tissue-based MSI assessment using a validated polymerase chain reaction-based method in patients with advanced GI cancers enrolled in GOZILA study, a nationwide ctDNA profiling study. The primary end points were overall percent agreement, positive percent agreement (PPA), and negative percent agreement. The efficacy of immune checkpoint inhibitor therapy was also evaluated.
resultsIn 658 patients with advanced GI cancers who underwent both plasma and tissue testing for MSI, the overall percent agreement, PPA, and negative percent agreement were 98.2% (95% CI, 96.8 to 99.1), 71.4% (95% CI, 47.8 to 88.7), and 99.1% (95% CI, 98.0 to 99.7), respectively. In patients whose plasma samples had a ctDNA fraction ≥ 1.0%, the PPA was 100.0% (15/15; 95% CI, 78.2 to 100.0). Three patients with MSI-high (MSI-H) tumors detected only by ctDNA genotyping achieved clinical benefits after receiving anti-programmed cell death 1 therapy with the progression-free survival ranging from 4.3 to 16.7 months. One patient with an aggressive cancer of an unknown primary site benefited from pembrolizumab after rapid detection of MSI-H by ctDNA genotyping.
conclusionctDNA genotyping was able to detect MSI with high concordance to validated tissue-based MSI testing, especially in patients with tumors that have sufficient ctDNA shedding. Furthermore, ctDNA genotyping enabled identification of patients with MSI-H tumors who benefited from immune checkpoint inhibitor treatment.
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