Review

Vol. 117: Issue 3 - June 2025

Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy

Authors

Jessica Gasparello , Vittoria Matilde Piva , Valentina Angerilli , Carlotta Ceccon , Marianna Sabbadin , Claudio Luchini , Paola Parente , Luisa Toffolatti , Federica Grillo , Francesca Bergamo , Umberto Malapelle , Sara Lonardi , Matteo Fassan

Key words: microsatellite, microsatellite instability, mismatch repair, gastrointestinal cancer
DOI: 10.32074/1591-951X-1110
Publication Date: 2025-07-04

Abstract

The introduction of immunotherapy has dramatically changed the paradigm of solid tumor treatment with the creation of novel therapeutic opportunities even for tumors that currently lack valid therapeutic options in the advanced or metastatic setting. Initially, the role of deficient mismatch repair status (dMMR)/microsatellite instability (MSI) as a predictive biomarker was confined to colorectal cancer. In 2017, MSI/dMMR became the first true agnostic biomarker to stratify patient response to immune checkpoint inhibitors. MSI/ dMMR evaluation is a crucial point in diagnostic-therapeutic decision-making for most gastrointestinal cancer patients and the pathologist must be responsible for the delivery of reliable reporting in this setting. The aim of this review is to summarize the current methods available in routine diagnostics for the evaluation of MSI/dMMR status, their limitations, and potential pitfalls that can be encountered. The authors also give an overview of the role of MSI/dMMR as a prognostic and predictive biomarker in gastrointestinal cancers, with a focus on non-colorectal malignancies.

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Authors

Jessica Gasparello - Department of Medicine (DIMED), University of Padua, Padua, Italy

Vittoria Matilde Piva - Department of Oncology Veneto Institute of Oncology, IOV-IRCCS, Padua, Italy

Valentina Angerilli - Department of Medicine (DIMED), University of Padua, Padua, Italy

Carlotta Ceccon - Department of Medicine (DIMED), University of Padua, Padua, Italy

Marianna Sabbadin - 1 Department of Medicine (DIMED), University of Padua, Padua, Italy; Surgical Pathology Unit, ULSS2 Marca Trevigiana, Treviso, Italy;

Claudio Luchini - Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, Verona, Italy

Paola Parente - Unit of Pathology, Fondazione IRCCS Ospedale Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy

Luisa Toffolatti - Surgical Pathology Unit, ULSS2 Marca Trevigiana, Treviso, Italy

Federica Grillo - Pathology Unit, Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genoa and IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Pathology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy;

Francesca Bergamo - Department of Oncology Veneto Institute of Oncology, IOV-IRCCS, Padua, Italy

Umberto Malapelle - Department of Public Health, University of Naples Federico II, Napoli, Italy

Sara Lonardi - Department of Oncology Veneto Institute of Oncology, IOV-IRCCS, Padua, Italy

Matteo Fassan - Department of Medicine (DIMED), University of Padua, Padua, Italy; Department of Oncology Veneto Institute of Oncology, IOV-IRCCS, Padua, Italy

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright

Copyright (c) 2025 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Gasparello, J., Piva, V. M., Angerilli, V., Ceccon, C., Sabbadin, M., Luchini, C., Parente, P., Toffolatti, L., Grillo, F., Bergamo, F. ., Malapelle, U., Lonardi, S., & Fassan, M. (2025). Lights and shadows of microsatellite status characterization in gastrointestinal cancers in the era of cancer precision therapy. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 117(3). https://doi.org/10.32074/1591-951X-1110
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