Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications

Myelodysplastic syndromes (MDS) constitute a very heterogeneous group of diseases with a high prevalence in elderly patients and a propensity for progression to acute myeloid leukemia. The complexity of these hematopoietic malignancies is revealed by the multiple recurrent somatic mutations involved...

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Main Authors: Yannick Simoni, Nicolas Chapuis
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/12/7/1659
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author Yannick Simoni
Nicolas Chapuis
author_facet Yannick Simoni
Nicolas Chapuis
author_sort Yannick Simoni
collection DOAJ
description Myelodysplastic syndromes (MDS) constitute a very heterogeneous group of diseases with a high prevalence in elderly patients and a propensity for progression to acute myeloid leukemia. The complexity of these hematopoietic malignancies is revealed by the multiple recurrent somatic mutations involved in MDS pathogenesis and the paradoxical common phenotype observed in these patients characterized by ineffective hematopoiesis and cytopenia. In the context of population aging, the incidence of MDS will strongly increase in the future. Thus, precise diagnosis and evaluation of the progression risk of these diseases are imperative to adapt the treatment. Dysregulations of both innate and adaptive immune systems are frequently detected in MDS patients, and their critical role in MDS pathogenesis is now commonly accepted. However, different immune dysregulations and/or dysfunctions can be dynamically observed during the course of the disease. Monitoring the immune system therefore represents a new attractive tool for a more precise characterization of MDS at diagnosis and for identifying patients who may benefit from immunotherapy. We review here the current knowledge of the critical role of immune dysfunctions in both MDS and MDS precursor conditions and discuss the opportunities offered by the detection of these dysregulations for patient stratification.
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spelling doaj.art-68003120520447bf93dc0f083e7513b02023-12-01T22:04:03ZengMDPI AGDiagnostics2075-44182022-07-01127165910.3390/diagnostics12071659Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical ApplicationsYannick Simoni0Nicolas Chapuis1Institut Cochin, Université Paris Cité, CNRS UMR8104, INSERM U1016, 75014 Paris, FranceInstitut Cochin, Université Paris Cité, CNRS UMR8104, INSERM U1016, 75014 Paris, FranceMyelodysplastic syndromes (MDS) constitute a very heterogeneous group of diseases with a high prevalence in elderly patients and a propensity for progression to acute myeloid leukemia. The complexity of these hematopoietic malignancies is revealed by the multiple recurrent somatic mutations involved in MDS pathogenesis and the paradoxical common phenotype observed in these patients characterized by ineffective hematopoiesis and cytopenia. In the context of population aging, the incidence of MDS will strongly increase in the future. Thus, precise diagnosis and evaluation of the progression risk of these diseases are imperative to adapt the treatment. Dysregulations of both innate and adaptive immune systems are frequently detected in MDS patients, and their critical role in MDS pathogenesis is now commonly accepted. However, different immune dysregulations and/or dysfunctions can be dynamically observed during the course of the disease. Monitoring the immune system therefore represents a new attractive tool for a more precise characterization of MDS at diagnosis and for identifying patients who may benefit from immunotherapy. We review here the current knowledge of the critical role of immune dysfunctions in both MDS and MDS precursor conditions and discuss the opportunities offered by the detection of these dysregulations for patient stratification.https://www.mdpi.com/2075-4418/12/7/1659myelodysplastic syndromesclonal hematopoiesis of indeterminate potentialinflammationaginginnate immunityadaptive immunity
spellingShingle Yannick Simoni
Nicolas Chapuis
Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
Diagnostics
myelodysplastic syndromes
clonal hematopoiesis of indeterminate potential
inflammation
aging
innate immunity
adaptive immunity
title Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
title_full Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
title_fullStr Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
title_full_unstemmed Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
title_short Diagnosis of Myelodysplastic Syndromes: From Immunological Observations to Clinical Applications
title_sort diagnosis of myelodysplastic syndromes from immunological observations to clinical applications
topic myelodysplastic syndromes
clonal hematopoiesis of indeterminate potential
inflammation
aging
innate immunity
adaptive immunity
url https://www.mdpi.com/2075-4418/12/7/1659
work_keys_str_mv AT yannicksimoni diagnosisofmyelodysplasticsyndromesfromimmunologicalobservationstoclinicalapplications
AT nicolaschapuis diagnosisofmyelodysplasticsyndromesfromimmunologicalobservationstoclinicalapplications