Next Article in Journal
The CXCL12 Crossroads in Cancer Stem Cells and Their Niche
Next Article in Special Issue
Management of Non-Colorectal Digestive Cancers with Microsatellite Instability
Previous Article in Journal
Macrophage and Lymphocyte Infiltration Is Associated with Volumetric Tumor Size but Not with Volumetric Growth in the Tübingen Schwannoma Cohort
Previous Article in Special Issue
Prognostic and Predictive Values of Mismatch Repair Deficiency in Non-Metastatic Colorectal Cancer
Review

Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors

by 1,2,3,4,†, 1,† and 1,2,3,4,*
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 / Revised: 19 January 2021 / Accepted: 22 January 2021 / Published: 26 January 2021
(This article belongs to the Special Issue Microsatellite Instability and Cancers)
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. View Full-Text
Keywords: Lynch syndrome; microsatellite instability; mismatch repair genes; MLH1 promoter methylation; BRAF mutation Lynch syndrome; microsatellite instability; mismatch repair genes; MLH1 promoter methylation; BRAF mutation
Show Figures

Graphical abstract

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 Style

Leclerc, 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

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop