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Review
. 2021 Apr;35(2):217-236.
doi: 10.1016/j.hoc.2020.12.002. Epub 2021 Jan 29.

Genetics of Myeloproliferative Neoplasms

Jakub Szybinski  1 , Sara C Meyer  2
Affiliations
Free article
Review

Genetics of Myeloproliferative Neoplasms

Jakub Szybinski et al. Hematol Oncol Clin North Am. 2021 Apr.
Free article

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.

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