Microsatellite Instability: From the Implementation of the Detection to a Prognostic and Predictive Role in Cancers

Microsatellite instability (MSI) has been identified in several tumors arising from either germline or somatic aberration. The presence of MSI in cancer predicts the sensitivity to immune checkpoint inhibitors (ICIs), particularly PD1/PD-L1 inhibitors. To date, the predictive role of MSI is currentl...

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Published inInternational journal of molecular sciences Vol. 23; no. 15; p. 8726
Main Authors Amato, Martina, Franco, Renato, Facchini, Gaetano, Addeo, Raffaele, Ciardiello, Fortunato, Berretta, Massimiliano, Vita, Giulia, Sgambato, Alessandro, Pignata, Sandro, Caraglia, Michele, Accardo, Marina, Zito Marino, Federica
Format Journal Article
LanguageEnglish
Published Basel MDPI AG 05.08.2022
MDPI
Subjects
Biomarkers
Brain cancer
Cancer
Chemotherapy
Clinical trials
Colorectal cancer
Colorectal carcinoma
DNA methylation
DNA polymerase
Endometrial cancer
FDA approval
Gastric cancer
Genetic disorders
Genomes
Genotype & phenotype
Immune checkpoint inhibitors
Immunohistochemistry
Immunotherapy
Inhibitors
Microsatellite instability
mismatch repair
Mutation
Next-generation sequencing
NGS
Ovarian cancer
PCR
PD-1 protein
PD-L1 protein
Polymerase chain reaction
Proteins
Review
Tumors
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Summary:Microsatellite instability (MSI) has been identified in several tumors arising from either germline or somatic aberration. The presence of MSI in cancer predicts the sensitivity to immune checkpoint inhibitors (ICIs), particularly PD1/PD-L1 inhibitors. To date, the predictive role of MSI is currently used in the selection of colorectal cancer patients for immunotherapy; moreover, the expansion of clinical trials into other cancer types may elucidate the predictive value of MSI for non-colorectal tumors. In clinical practice, several assays are used for MSI testing, including immunohistochemistry (IHC), polymerase chain reaction (PCR) and next-generation sequencing (NGS). In this review, we provide an overview of MSI in various cancer types, highlighting its potential predictive/prognostic role and the clinical trials performed. Finally, we focus on the comparison data between the different assays used to detect MSI in clinical practice.
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These authors contributed equally to this work.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms23158726