ArticleJournal of translational medicine2020
A novel NGS-based microsatellite instability (MSI) status classifier with 9 loci for colorectal cancer patients.
Article in Journal of translational medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Wnt signaling in cancer: from biomarkers to targeted therapies and clinical translation.Molecular cancer · 2025Review
- Unleashing the power of urine‑based biomarkers in diagnosis, prognosis and monitoring of bladder cancer (Review).International journal of oncology · 2025Review
- Tumor microenvironment and cancer metastasis: molecular mechanisms and therapeutic implications.Frontiers in pharmacology · 2024Review
- Case report: Efficacy of immunotherapy as conversion therapy in dMMR/MSI-H colorectal cancer: a case series and review of the literature.Frontiers in immunology · 2024Review
- Article
- Endometrial Adenocarcinoma with Discordant Microsatellite Stability Status Treated with First-Line Pembrolizumab: A Case Report and Narrative Review.The American journal of case reports · 2023Review
- Stage III deficient mismatch repair colon patients get greater benefit from earlier starting oxaliplatin-based chemotherapy regimen.Scientific reports · 2023Article
- Supporting Biomarker-Driven Therapies in Oncology: A Genomic Testing Cost Calculator.The oncologist · 2023Article
- Molecular methods for colorectal cancer screening: Progress with next-generation sequencing evolution.World journal of gastrointestinal oncology · 2023Review
- DeltaMSI: artificial intelligence-based modeling of microsatellite instability scoring on next-generation sequencing data.BMC bioinformatics · 2023Article
- Article
- WASF2 Serves as a Potential Biomarker and Therapeutic Target in Ovarian Cancer: A Pan-Cancer Analysis.Frontiers in oncology · 2022Article
- Clinicopathological characteristics of high microsatellite instability/mismatch repair-deficient colorectal cancer: A narrative review.Frontiers in immunology · 2022Review
- MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer.Cancers · 2021Article
- Major Vault Protein (MVP) Associated WithFrontiers in cell and developmental biology · 2021Article
- Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates.Computational and structural biotechnology journal · 2021Review
- T-Box Transcription Factor 22 Is an Immune Microenvironment-Related Biomarker Associated With theFrontiers in cell and developmental biology · 2020Article
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13 authors.
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Abstract
backgroundWith the recent emergence of immune checkpoint inhibitors, microsatellite instability (MSI) status has become an important biomarker for immune checkpoint blockade therapy. There are growing technical demands for the integration of different genomic alterations profiling including MSI analysis in a single assay for full use of the limited tissues.
methodsTumor and paired control samples from 64 patients with primary colorectal cancer were enrolled in this study, including 14 MSI-high (MSI-H) cases and 50 microsatellite stable (MSS) cases determined by MSI-PCR. All the samples were sequenced by a customized NGS panel covering 2.2 MB. A training dataset of 28 samples was used for selection of microsatellite loci and a novel NGS-based MSI status classifier, USCI-msi, was developed. NGS-based MSI status, single nucleotide variant (SNV) and tumor mutation burden (TMB) were detected for all patients. Most of the patients were also independently detected by immunohistochemistry (IHC) staining.
resultsA 9-loci model for detecting microsatellite instability was able to correctly predict MSI status with 100% sensitivity and specificity compared with MSI-PCR, and 84.3% overall concordance with IHC staining. Mutations in cancer driver genes (APC, TP53, and KRAS) were dispersed in MSI-H and MSS cases, while BRAF p.V600E and frameshifts in TCF7L2 gene occurred only in MSI-H cases. Mismatch repair (MMR)-related genes are highly mutated in MSI-H samples.
conclusionWe established a new NGS-based MSI classifier, USCI-msi, with as few as 9 microsatellite loci for detecting MSI status in CRC cases. This approach possesses 100% sensitivity and specificity, and performed robustly in samples with low tumor purity.
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