Genetics of Myeloproliferative Neoplasms

Jakub Szybinski; Sara C Meyer

doi:10.1016/j.hoc.2020.12.002

Genetics of Myeloproliferative Neoplasms

Hematol Oncol Clin North Am. 2021 Apr;35(2):217-236. doi: 10.1016/j.hoc.2020.12.002. Epub 2021 Jan 29.

Authors

Jakub Szybinski¹, Sara C Meyer²

Affiliations

¹ Department of Biomedicine, University Hospital Basel and University of Basel, Hebelstrasse 20, Basel CH-4031, Switzerland.
² 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: [email protected].

PMID: 33641865
DOI: 10.1016/j.hoc.2020.12.002

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.

Keywords: Calreticulin; Genetic alterations; Genetics; Genomics; JAK2; MPL; Myeloproliferative neoplasms.

Publication types

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

MeSH terms

Calreticulin / genetics
Hematopoietic Stem Cells
Humans
Janus Kinase 2 / genetics
Mutation
Myeloproliferative Disorders* / genetics
Neoplasms* / genetics
STAT Transcription Factors / genetics
Signal Transduction

Substances

Calreticulin
STAT Transcription Factors
Janus Kinase 2