The identification of an acquired somatic mutation in the JAK2 gene, resulting in a valine to phenylalanine substitution at position 617 (JAK2-V617F), has provided new insights into the pathogenesis of BCR-ABL1-negative MPN, being present in most patients with polycythaemia vera (PV) and in about 50% of patients with essential thrombocythemia (ET) and PMF [59,60]. This evidence concerns the gene JAK2 and acquired polycythemia vera.