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Microsatellite Instability (MSI) and Mismatch Repair Deficient (dMMR)-Related Diseases: From Detection Methods to Practice

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 20 August 2025 | Viewed by 498

Special Issue Editor


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Guest Editor
Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania “L. Vanvitelli”, 80138 Naples, Italy
Interests: predictive biomarkers; molecular profile; next-generation sequencing (NGS); immunohistochemistry (IHC); immunotherapy; target therapy; personalized medicine; molecular biology in cancer

Special Issue Information

Dear Colleagues,

Microsatellite instability (MSI-H) and mismatch repair deficiency (dMMR) have been observed in several types of cancer, most commonly in colorectal, endometrial, and gastric cancers. Patients with MSI-positive tumors can benefit from immunotherapy; however, many studies have shown that there is wide heterogeneity in terms of detection assays, prognosis, and immunotherapy sensitivity. This Special Issue will encompass a diverse range of topics related to MSI in cancer, including the prevalence and potentially expanded role for clinical MSI testing across multiple tumor types that could benefit from immunotherapy; the inherited germline MMR pathway mutations, such as in Lynch syndrome; and the proper methods of identification, such as IHC, NGS, and PCR. This Special Issue focuses, but is not limited to, on recent developments regarding the MSI in colorectal, endometrial, and gastric cancer and the MSI role as an emerging biomarker in other tumors, such as gliomas, triple-negative breast cancers, renal carcinomas, pediatric tumors, bladder carcinomas, and lung cancers.

We are organizing a Special Issue on “Microsatellite instability (MSI) and Mismatch Repair Deficient (dMMR)-Related Diseases: From Detection Methods to Practice” that may be of interest to you. The clinical significance of MSI has been well described in colorectal, endometrial, and gastric cancers; however, MSI was observed to be frequent in other tumor types with potential clinical relevance. In this view, this Special issue will focus on methods of identification and the prevalence of MSI in various cancers. 

We are pleased to invite you to submit research papers, reviews, communications, etc., for this Special Issue.

Dr. Federica Zito Marino
Guest Editor

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Keywords

  • microsatellite instability (MSI)
  • mismatch repair deficient (dMMR)
  • immunotherapy
  • next-generation sequencing (NGS)
  • immunohistochemistry (IHC)
  • polymerase chain reaction (PCR)
  • MSI-positive tumors

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Published Papers (1 paper)

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Review

24 pages, 818 KiB  
Review
Deficient Mismatch Repair and Microsatellite Instability in Solid Tumors
by Joy A. Awosika, James L. Gulley and Danielle M. Pastor
Int. J. Mol. Sci. 2025, 26(9), 4394; https://doi.org/10.3390/ijms26094394 - 6 May 2025
Viewed by 118
Abstract
The integrity of the genome is maintained by mismatch repair (MMR) proteins that recognize and repair base mismatches and insertion/deletion errors generated during DNA replication and recombination. A defective MMR system results in genome-wide instability and the progressive accumulation of mutations. Tumors exhibiting [...] Read more.
The integrity of the genome is maintained by mismatch repair (MMR) proteins that recognize and repair base mismatches and insertion/deletion errors generated during DNA replication and recombination. A defective MMR system results in genome-wide instability and the progressive accumulation of mutations. Tumors exhibiting deficient MMR (dMMR) and/or high levels of microsatellite instability (termed “microsatellite instability high”, or MSI-H) have been shown to possess fundamental differences in clinical, pathological, and molecular characteristics, distinguishing them from their “microsatellite stable” (MSS) counterparts. Molecularly, they are defined by a high mutational burden, genetic instability, and a distinctive immune profile. Their distinct genetic and immunological profiles have made dMMR/MSI-H tumors particularly amenable to treatment with immune checkpoint inhibitors (ICIs). The ongoing development of biomarker-driven therapies and the evaluation of novel combinations of immune-based therapies, with or without the use of conventional cytotoxic treatment regimens, continue to refine treatment strategies with the goals of maximizing therapeutic efficacy and survival outcomes in this distinct patient population. Moreover, the resultant knowledge of the mechanisms by which these features are suspected to render these tumors more responsive, overall, to immunotherapy may provide information regarding the potential optimization of this therapeutic approach in tumors with proficient MMR (pMMR)/MSS tumors. Full article
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