Evaluation of JAK2 V617F Mutation and Correlations of This Mutation with Clinical and Laboratory Findings in Patients with Myeloproliferative Neoplasms

In 2005, multiple groups identified a high frequency of the V617F (G→T) mutation in the tyrosine kinase gene JAK2 in myeloproliferative neoplasms. In this study, we evaluated prevalence of JAK2 mutation and it’s clinical and laboratory correlates in patients with myeloproliferative neoplasms (MPNs). The JAK2 mutation was investigated with ARMS-PCR in 92 patients with myeloproliferative neop-lasms by simple randomized sampling. The JAK2 V617F mutation was detected in 86.6% (26/30) of patients with polycythemia vera, 46.6% (7/15) of patients with essential thrombocythemia, 61.5% (8/13) of patients with idiopathic myelofibrosis, and 14% (4/34) of patients with chronic myeloid leukemia. Polycythemia vera patients carrying the mutation dis-played a higher levels of WBC (P = 0.03); 61.5% (16/26) of these patients were female and 17 patients had sple-nomegaly. One patient had simultaneously JAK2 V617F mutation and Philadelphia chromosome. The differences in other groups were not significant. The mutation was confirmed by sequencing. These correlations imply that detection of this mutation will not only have a diagnostic value, but also a role in treatment given the development of STAT/JAK pathway inhibiting drugs.