Mutations and thrombosis in essential thrombocythemia
Paola Guglielmelli, Naseema Gangat, Giacomo Coltro, Terra L. Lasho, Giuseppe Gaetano Loscocco, Christy M. Finke, Erika Morsia, Benedetta Sordi, Natasha Szuber, Curtis A. Hanson, Animesh Pardanani, Alessandro M. Vannucchi, Ayalew Tefferi
Abstract
Essential thrombocythemia (ET) constitutes one of the three JAK2/MPL/CALR-mutated myeloproliferative neoplasms (MPNs), which also include polycythemia vera (PV) and primary myelofibrosis (PMF)1. ET is defined by clonal thrombocytosis (platelet count ≥450 × 109/L) and characteristic bone marrow megakaryocyte morphology; the clinical phenotype in ET might include leukocytosis, splenomegaly, microvascular symptoms, and thrombohemorrhagic complications1. Most patients with ET enjoy a near-normal life expectancy while disease progression into fibrotic or leukemic transformation is relatively infrequent (<1% in the first 10 years of disease).