Genetics of Myeloproliferative Neoplasms.

Calreticulin / genetics Hematopoietic Stem Cells Humans Janus Kinase 2 / genetics Mutation Myeloproliferative Disorders / genetics Neoplasms / genetics STAT Transcription Factors / genetics Signal Transduction
Calreticulin Genetic alterations Genetics Genomics JAK2 MPL Myeloproliferative neoplasms

Journal

Hematology/oncology clinics of North America
ISSN: 1558-1977
Titre abrégé: Hematol Oncol Clin North Am
Pays: United States
ID NLM: 8709473

Informations de publication

Date de publication:
04 2021
Historique:
entrez: 1 3 2021
pubmed: 2 3 2021
medline: 4 3 2022
Statut: ppublish

Résumé

Myeloproliferative neoplasms are hematopoietic stem cell disorders based on somatic mutations in JAK2, calreticulin, or MPL activating JAK-STAT signaling. Modern sequencing efforts have revealed the genomic landscape of myeloproliferative neoplasms with additional genetic alterations mainly in epigenetic modifiers and splicing factors. High molecular risk mutations with adverse outcomes have been identified and clonal evolution may promote progression to fibrosis and acute myeloid leukemia. JAK2V617F is recurrently detected in clonal hematopoiesis of indeterminate potential with increased risk for vascular events. Insights into the genetics of myeloproliferative neoplasms has facilitated diagnosis and prognostication and poses novel candidates for targeted therapeutic intervention.

Identifiants

DOI: 10.1016/j.hoc.2020.12.002 PMID: 33641865
pubmed: 33641865
pii: S0889-8588(20)30153-2
doi: 10.1016/j.hoc.2020.12.002
pii:
doi:

Substances chimiques

Calreticulin 0
STAT Transcription Factors 0
Janus Kinase 2 EC 2.7.10.2

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

217-236

Informations de copyright

Copyright © 2020 The Author(s). Published by Elsevier Inc. All rights reserved.

Auteurs

Jakub Szybinski (J)

Department of Biomedicine, University Hospital Basel and University of Basel, Hebelstrasse 20, Basel CH-4031, Switzerland.

Sara C Meyer (SC)

Department of Biomedicine, University Hospital Basel and University of Basel, Hebelstrasse 20, Basel CH-4031, Switzerland; Division of Hematology, University Hospital Basel, Petersgraben 4, Basel CH-4031, Switzerland. Electronic address: sara.meyer@unibas.ch.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Lectines › Calréticuline › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Cellules souches hématopoïétiques › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Kinase Janus-2 › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Tumeurs › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription STAT › Genetics of Myeloproliferative Neoplasms.
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Genetics of Myeloproliferative Neoplasms.