Molecular Pathology of Myeloid Neoplasms: Molecular Pattern Recognition.

Humans Mutation Myeloproliferative Disorders / genetics Pathology, Molecular Myelodysplastic Syndromes / genetics
Clonal hematopoiesis Mutational patterns Myeloid neoplasms Next-generation sequencing

Journal

Clinics in laboratory medicine
ISSN: 1557-9832
Titre abrégé: Clin Lab Med
Pays: United States
ID NLM: 8100174

Informations de publication

Date de publication:
Jun 2024
Historique:
medline: 1 6 2024
pubmed: 1 6 2024
entrez: 31 5 2024
Statut: ppublish

Résumé

Despite the apparent complexity of the molecular genetic underpinnings of myeloid neoplasms, most myeloid mutational profiles can be understood within a simple framework. Somatic mutations accumulate in hematopoietic stem cells with aging and toxic insults, termed clonal hematopoiesis. These "old stem cells" mutations, predominantly in the epigenetic and RNA spliceosome pathways, act as "founding" driver mutations leading to a clonal myeloid neoplasm when sufficient in number and clone size. Subsequent mutations can create the genetic flavor of the myeloid neoplasm ("backseat" drivers) due to their enrichment in certain entities or act as progression events ("aggressive" drivers) during clonal evolution.

Identifiants

DOI: 10.1016/j.cll.2023.08.007 PMID: 38821648
pubmed: 38821648
pii: S0272-2712(23)00084-7
doi: 10.1016/j.cll.2023.08.007
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

339-353

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Auteurs

Sam Sadigh (S)

Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.

Annette S Kim (AS)

Division of Diagnostic Genetics and Genomics, Department of Pathology, University of Michigan/Michigan Medicine, 2800 Plymouth Road, NCRC 36-1221-79, Ann Arbor, MI 48109, USA. Electronic address: kimannet@med.umich.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Molecular Pathology of Myeloid Neoplasms:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Molecular Pathology of Myeloid Neoplasms:...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Molecular Pathology of Myeloid Neoplasms:...
questionsmedicales.fr › Professions de santé › Médecine › Anatomopathologie › Anatomopathologie moléculaire › Molecular Pathology of Myeloid Neoplasms:...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myélodysplasiques › Molecular Pathology of Myeloid Neoplasms:...