Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors
1
Molecular Oncogenetics, Department of Biochemistry and Molecular Biology, CHU Lille, F-59000 Lille, France
2
Univ. Lille, UMR9020-U1277—CANTHER—Cancer Heterogeneity Plasticity and Resistance to Therapies, F-59000 Lille, France
3
CNRS, UMR9020, F-59000 Lille, France
4
Inserm, U1277, F-59000 Lille, France
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Academic Editors: David Tougeron and Violaine Randrian
Cancers 2021, 13(3), 467; https://doi.org/10.3390/cancers13030467
Received: 24 November 2020
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Revised: 19 January 2021
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Accepted: 22 January 2021
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Published: 26 January 2021
(This article belongs to the Special Issue Microsatellite Instability and Cancers)
Simple Summary
Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are sporadic. Therefore, the identification of MSI/dMMR requires additional diagnostic tools to identify LS. In this review, we address the hallmarks of LS and present recent advances in diagnostic and screening strategies to identify LS patients. We also discuss the pitfalls associated with current strategies, which should be taken into account in order to improve the diagnosis of LS.
Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related tumors but is not specific to it, as approximately 80% of MSI/mismatch repair-deficient (dMMR) tumors are sporadic. Methods leading to the diagnosis of LS have considerably evolved in recent years and so have tumoral tests for LS screening and for the discrimination of LS-related to MSI-sporadic tumors. In this review, we address the hallmarks of LS, including the clinical, histopathological, and molecular features. We present recent advances in diagnostic and screening strategies to identify LS patients. We also discuss the pitfalls associated with the current strategies, which should be taken into account to improve the diagnosis of LS and avoid inappropriate clinical management.
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Keywords:
Lynch syndrome; microsatellite instability; mismatch repair genes; MLH1 promoter methylation; BRAF mutation
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
MDPI and ACS Style
Leclerc, J.; Vermaut, C.; Buisine, M.-P. Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors. Cancers 2021, 13, 467. https://doi.org/10.3390/cancers13030467
AMA Style
Leclerc J, Vermaut C, Buisine M-P. Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors. Cancers. 2021; 13(3):467. https://doi.org/10.3390/cancers13030467
Chicago/Turabian StyleLeclerc, Julie, Catherine Vermaut, and Marie-Pierre Buisine. 2021. "Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors" Cancers 13, no. 3: 467. https://doi.org/10.3390/cancers13030467
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