Genetics of Myeloproliferative Neoplasms

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 epige...

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Bibliographic Details
Published inHematology/oncology clinics of North America Vol. 35; no. 2; p. 217
Main Authors Szybinski, Jakub, Meyer, Sara C
Format Journal Article
LanguageEnglish
Published United States 01.04.2021
Subjects
Calreticulin - genetics
Hematopoietic Stem Cells
Humans
Janus Kinase 2 - genetics
Mutation
Myeloproliferative Disorders - genetics
Neoplasms - genetics
Signal Transduction
STAT Transcription Factors - genetics
Calreticulin
Genomics
Genetic alterations
Myeloproliferative neoplasms
MPL
Genetics
JAK2
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Summary: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.
ISSN:1558-1977
DOI:10.1016/j.hoc.2020.12.002