Milena Tocut MD, Noordeen Shreem MD, Itay Silbershatz MD, Gisele Zandman-Goddard MD
Polycythemia vera (PV) is a chronic, Philadelphia chromosome-negative myeloproliferative neoplasm primarily driven by the Janus kinase 2 (JAK2) V617F mutation. PV leads to clonal erythrocytosis and is frequently accompanied in laboratory blood tests with leukocytosis and thrombocytosis. The diagnostic approach to PV is based on increased red cell volume and the presence of a JAK2 mutation [1]. PV should not be defined solely by hemoglobin or hematocrit values. In a large study of the genomic landscape of myeloproliferative neoplasms, approximately 65% of patients with PV had at least one additional mutation in addition to the driver mutation, most commonly in TET2, DNMT3A, and ASXL1 genes [2].