Applied Genomics in MPN Presentation
Overview
Authors
Affiliations
Polycythemia vera, essential thrombocytosis (ET), and primary myelofibrosis (PMF) are grouped together as myeloproliferative neoplasms (MPNs) because of shared clinical, pathologic, and molecular features. The 2005 discovery of the driver mutation JAK2V617F, found in more than 70% of individuals with MPNs and 98% of those with PV, has transformed the diagnosis and management of MPNs. Although PV is the most common phenotype associated with JAK2V617F, roughly 60% of individuals with ET or PMF also have the mutation, and JAK2V617F is now recognized as a common lesion in clonal hematopoiesis (CH). JAK2V617F+ CH and MPN are indolent disorders that evolve over time, with transitions to different disease phases, transformation to bone marrow failure or leukemia, and high thrombosis rates. Genomic assessment has taken center stage as an important tool to define disease phenotype, disease burden, prognosis, and even thrombosis risk of MPNs. Genomics has also unveiled the causes and factors that modify the risk of acquiring and expanding CH and MPNs and points to new pathways for targeted therapies to treat and ultimately prevent them. Genomic assessment of patients with MPNs, like other cancers, enables the clinician to capitalize on large population data sets to inform the individual patient of risk, identify treatment, and improve outcomes.
High Mobility Group A1 Chromatin Keys: Unlocking the Genome During MPN Progression.
Resar L, Luo L Int J Mol Sci. 2025; 26(5).
PMID: 40076747 PMC: 11899949. DOI: 10.3390/ijms26052125.
Wang Z, Tian X, Ma J, Zhang Y, Ta W, Duan Y Cancer Med. 2024; 13(7):e7123.
PMID: 38618943 PMC: 11017299. DOI: 10.1002/cam4.7123.
Li L, Kim J, Lu W, Williams D, Kim J, Cope L Blood. 2022; 139(18):2797-2815.
PMID: 35286385 PMC: 9074401. DOI: 10.1182/blood.2021013925.
Torres D, Paes J, da Costa A, Malheiro A, Silva G, de Souza Mourao L Biomolecules. 2022; 12(2).
PMID: 35204792 PMC: 8961666. DOI: 10.3390/biom12020291.