JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera.

A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD). To investigate the incidence and clinical significance of the JAK2 mutation, we performed allele-specific polymerase chain reaction (PCR) and enzyme-based assessment in 11 idiopathic erythrocytosis (IE) and 15 polycythemia vera (PV) patients. Aberrant bands indicating the V617F mutation were detected in only one of 11 patients with IE, whereas all of the 15 patients with PV showed the JAK2 mutation. Sequence analysis was subsequently performed in the IE patient showing aberrant bands on allele-specific PCR, and a nucleotide change corresponding to the V617F mutation was detected in four of 29 clones tested. This patient might have progressed to PV according to the new WHO diagnostic criteria proposed in 2007, since a gradual increase in platelet counts was observed 4 years after the time of diagnosis. A further longitudinal study monitoring V617F positive-cells will clarify the process of progression from IE to PV in such a patient.