JAK2 V617F mutation was identified in 36 (56.3%) of 64 patients with essential trombocythemia. Patients with JAK2 V617F mutation have a PV-like phenotype (high haemoglobin level and hypercellular marrow). Furthermore, JAK2 V617 mutational status is strongly associated with morphological changes in the megakaryocyte lineage, such as hyperplasia, dysplasia, size, nuclear morphology and clustering, as detected by the BM biopsy. Therefore, JAK2 V617 mutation identifies a distinct morphologic subtype of ET.
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