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  3. Genetics of Myeloproliferative Neoplasms.

Genetics of Myeloproliferative Neoplasms.

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DOI
10.48350/190291
Publisher DOI
10.1016/j.hoc.2020.12.002
PubMed ID
33641865
Abstract
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.
Date Issued
2021-04
Publication Type
Article
Subject(s)
600 Technology > 610 Medicine & health
Subjects
Calreticulin Genetic alterations Genetics Genomics JAK2 MPL Myeloproliferative neoplasms
Language(s)
en
Author(s)
Szybinski, Jakub
Meyer, Sara Christina  
Universitätsklinik für Hämatologie und Hämatologisches Zentrallabor  
Additional Credits
Universitätsklinik für Hämatologie und Hämatologisches Zentrallabor  
Journal
Hematology/oncology clinics of North America
Publisher
Elsevier
ISSN
1558-1977
Access(Rights)
open.access
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