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Article

The Mutational Landscape in Polycythemia Vera: Phenotype, Genotype, and Prognostic Correlates.

American journal of hematology - 1 Aug 2025

Rana Masooma S, Iftikhar Moazah, Jadoon Yamna, Abdelmagid Maymona, Viswanatha David S, He Rong, Reichard Kaaren K, Pardanani Animesh D, Gangat Naseema, Tefferi Ayalew

Abstract excerpt

Polycythemia vera (PV) is invariably associated with a JAK2 mutation, with over 50% of patients harboring additional non-JAK2 mutations. In the current study, 319 patients with PV underwent NGS at diagnosis or in chronic phase PV (Group A: N = 270, 85%) or at the time of fibrotic (Group B; N = 37, 12%) or leukemic (Group C; N = 12, 4%) transformation. Mutational frequencies involving TP53/SRSF2/IDH1/U2AF1 were...

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Identifiers

PMID: 40372079
DOI: 10.1002/ajh.27717

Genes

JAK2
SRSF2
IDH2
TP53
ASXL1
IDH1
NRAS
U2AF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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