ArticleEBioMedicine2024
Microsatellite instability in mismatch repair proficient colorectal cancer: clinical features and underlying molecular mechanisms.
Article in EBioMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- A Comprehensive Evaluation of the Effectiveness and Safety of Pembrolizumab for the Treatment of Metastatic Colorectal Cancer: A Systematic Review and Meta-Analysis.Current cancer drug targets · 2026Pooled it
- Review
- Article
- Colorectal cancer pathogenesis, oncogenic signaling networks and targeted therapeutic advances.Molecular biomedicine · 2026Review
- Impact of liver metastasis on the efficacy of immune checkpoint inhibitors for advanced colorectal cancer.World journal of gastrointestinal oncology · 2026Article
- Case Report: Synchronous colorectal adenocarcinomas with discordant mismatch repair status: a case of lynch-like syndrome and serrated pathway association.Frontiers in oncology · 2026Article
- Immune checkpoint inhibitors in dMMR-MSI-H colorectal cancer: rationale, progress and prospects.Frontiers in immunology · 2026Review
- Application value of CT-based extracellular volume fraction in assessing microsatellite status in colorectal cancer.American journal of translational research · 2026Article
- Article
- Novel African American Colorectal CancerHuman mutation · 2026Article
- Senescence-associated and immune-related 9p21.3 locus genes in colorectal cancer: epigenetic architecture, molecular landscape and therapeutic possibilities.Frontiers in cell and developmental biology · 2026Review
- The Age of Molecular Biomarkers: Cancer in the Era of Personalized Medicine. What Do Pathologists in Developing Countries Need to Know and Understand?International journal of general medicine · 2026Review
- Relationship between MLH1, MSH2, MSH6, and PMS2 protein expression status and clinicopathological characteristics in colorectal cancer tissues.Frontiers in medicine · 2026Article
- A prognostic nomogram for colorectal cancer: integrating blood microbiome and clinical factors.Journal of gastrointestinal oncology · 2025Article
- The construction of a prognostic nomogram model for colorectal cancer and the prediction of immune characteristics and immune treatment responses based on the bioinformatics analysis of soluble mediator-related genes.Human vaccines & immunotherapeutics · 2025Article
- Efficacy of immunotherapy in gastrointestinal (GI) tumors with mismatch repair deficient (MMRd) unusual phenotype: an AGEO real-world study.Journal for immunotherapy of cancer · 2025Article
- Notch1 Mutation Represents a Potential Therapeutic Target to Enhance Immune Recognition in Oral Squamous Cell Carcinoma.Cancer reports (Hoboken, N.J.) · 2025Article
- Certain pMMR colorectal cancer patients should undergo additional MSI-PCR testing to reduce the risk of misdiagnosing MSI-H and Lynch syndrome.BMC cancer · 2025Article
- The Role of Proteomics and Genomics in the Development of Colorectal Cancer Diagnostic Tools and Potential New Treatments.ACS pharmacology & translational science · 2025Review
- APhenomics (Cham, Switzerland) · 2025Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundBoth defects in mismatch repair (dMMR) and high microsatellite instability (MSI-H) have been recognised as crucial biomarkers that guide treatment strategies and disease management in colorectal cancer (CRC). As MMR and MSI tests are being widely conducted, an increasing number of MSI-H tumours have been identified in CRCs with mismatch repair proficiency (pMMR). The objective of this study was to assess the clinical features of patients with pMMR/MSI-H CRC and elucidate the underlying molecular mechanism in these cases.
methodsFrom January 2015 to December 2018, 1684 cases of pMMR and 401 dMMR CRCs were enrolled. Of those patients, 93 pMMR/MSI-H were identified. The clinical phenotypes and prognosis were analysed. Frozen and paraffin-embedded tissue were available in 35 patients with pMMR/MSI-H, for which comprehensive genomic and transcriptomic analyses were performed.
findingsIn comparison to pMMR/MSS CRCs, pMMR/MSI-H CRCs exhibited significantly less tumour progression and better long-term prognosis. The pMMR/MSI-H cohorts displayed a higher presence of CD8+ T cells and NK cells when compared to the pMMR/MSS group. Mutational signature analysis revealed that nearly all samples exhibited deficiencies in MMR genes, and we also identified deleterious mutations in MSH3-K383fs.
interpretationThis study revealed pMMR/MSI-H CRC as a distinct subgroup within CRC, which manifests diverse clinicopathological features and long-term prognostic outcomes. Distinct features in the tumour immune-microenvironment were observed in pMMR/MSI-H CRCs. Pathogenic deleterious mutations in MSH3-K383fs were frequently detected, suggesting another potential biomarker for identifying MSI-H.
fundingThis work was supported by the Science and Technology Commission of Shanghai Municipality (20DZ1100101).
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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.