Korean J Intern Med.  2020 Jan;35(1):1-11. 10.3904/kjim.2019.317.

Recent insights regarding the molecular basis of myeloproliferative neoplasms

Affiliations
  • 1Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Bucheon, Korea
  • 2Division of Oncology and Hematology, Department of Internal Medicine, Korea University Guro Hospital, Seoul, Korea

Abstract

Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal disorders characterized by the overproduction of mature blood cells that have an increased risk of thrombosis and progression to acute myeloid leukemia. Next-generation sequencing studies have provided key insights regarding the molecular mechanisms of MPNs. MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R. Cooperating driver genes are also frequently detected and also mutated in other myeloid neoplasms; these driver genes are involved in epigenetic methylation, messenger RNA splicing, transcription regulation, and signal transduction. In addition, other genetic factors such as germline predisposition, order of mutation acquisition, and variant allele frequency also influence disease initiation and progression. This review summarizes the current understanding of the genetic basis of MPN, and demonstrates how molecular pathophysiology can improve both our understanding of MPN heterogeneity and clinical practice.

Keyword

Mutation; Thrombocythemia, essential; Polycythemia vera; Primary myelofibrosis
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