Szybinski, Jakub; Meyer, Sara C. (2021). Genetics of Myeloproliferative Neoplasms. Hematology/oncology clinics of North America, 35(2), pp. 217-236. Elsevier 10.1016/j.hoc.2020.12.002
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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.
Item Type: |
Journal Article (Review Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory |
UniBE Contributor: |
Meyer, Sara Christina |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1558-1977 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Julia Elisa Garcia |
Date Deposited: |
27 Dec 2023 08:07 |
Last Modified: |
27 Dec 2023 08:16 |
Publisher DOI: |
10.1016/j.hoc.2020.12.002 |
PubMed ID: |
33641865 |
Uncontrolled Keywords: |
Calreticulin Genetic alterations Genetics Genomics JAK2 MPL Myeloproliferative neoplasms |
BORIS DOI: |
10.48350/190291 |
URI: |
https://boris.unibe.ch/id/eprint/190291 |
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