Somatic compensation of inherited bone marrow failure.

Anemia, Aplastic / genetics Bone Marrow Diseases / genetics Bone Marrow Failure Disorders Congenital Bone Marrow Failure Syndromes Hemoglobinuria, Paroxysmal / genetics Humans
Clonal hematopoiesis Inherited bone marrow failure syndromes Somatic compensation

Journal

Seminars in hematology
ISSN: 1532-8686
Titre abrégé: Semin Hematol
Pays: United States
ID NLM: 0404514

Informations de publication

Date de publication:
07 2022
Historique:
received: 23 05 2022
revised: 11 07 2022
accepted: 28 07 2022
entrez: 17 9 2022
pubmed: 18 9 2022
medline: 21 9 2022
Statut: ppublish

Résumé

Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by insufficient blood cell production and increased risk of transformation to myeloid malignancies. While genetically diverse, IBMFS are collectively defined by a cell-intrinsic hematopoietic stem cell (HSC) fitness defect that impairs HSC self-renewal and hematopoietic differentiation. In IBMFS, HSCs frequently acquire mutations that improve cell fitness, a phenomenon known as somatic compensation. Somatic compensation can occur via distinct genetic processes such as loss of the germline mutation or somatic alterations in pathways affected by the disease-causing gene. While the clinical implications of somatic compensation in IBMFS remain to be fully discovered, understanding these mutational processes can help understand disease pathophysiology and may inform future diagnostic and therapeutic approaches. In this review, we highlight current understanding about somatic compensation in IBMFS.

Identifiants

DOI: 10.1053/j.seminhematol.2022.07.002 PMID: 36115694
pubmed: 36115694
pii: S0037-1963(22)00040-3
doi: 10.1053/j.seminhematol.2022.07.002
pii:
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

167-173

Informations de copyright

Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.

Auteurs

Sofie Lundgren (S)

University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, Hematology Research Unit Helsinki, Helsinki, Uusimaa, Finland; Department of Clinical Chemistry and Hematology, Translational Immunology Research program, University of Helsinki, Helsinki, Uusimaa, Finland.

Mikko Keränen (M)

University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, Hematology Research Unit Helsinki, Helsinki, Uusimaa, Finland; Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Uusimaa, Finland.

Ulla Wartiovaara-Kautto (U)

Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Uusimaa, Finland.

Mikko Myllymäki (M)

University of Helsinki and Helsinki University Hospital Comprehensive Cancer Center, Hematology Research Unit Helsinki, Helsinki, Uusimaa, Finland; Department of Clinical Chemistry and Hematology, Translational Immunology Research program, University of Helsinki, Helsinki, Uusimaa, Finland; Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Uusimaa, Finland. Electronic address: mikko.myllymaki@helsinki.fi.

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Classifications MeSH

questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Aplasies médullaires › Anémie aplasique › Somatic compensation of inherited bone marrow failure.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Somatic compensation of inherited bone marrow failure.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Aplasies médullaires › Somatic compensation of inherited bone marrow failure.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Insuffisances médullaires congénitales › Somatic compensation of inherited bone marrow failure.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myélodysplasiques › Hémoglobinurie paroxystique › Somatic compensation of inherited bone marrow failure.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Somatic compensation of inherited bone marrow failure.