JAK2 mutation in myeloproliferative disorders and clinical features

Background and aims: The recent discovery of JAK2 V617F point mutation in BCR/ABL negative chronic myeloproliferative disorders (MPD) has led to an increase in the knowledge for pathogenetic mechanisms. New diagnostic algorithms are developed for now and promising treatement alternatives are on the way. According to recent studies the mutation is shared by 90-95% of PV, 50-70% of ET and 40-50% of PMF patients. These studies are focused on clinical and prognostic factors such as age, thrombosis, leucocytosis, pruritus, hepatomegaly, splenomegaly and their relations with this mutation. In this study, we tried to point out the prevalence of JAK2 V617F in our patients with myeloproliferative disorders and its significance for clinical and prognostic factors.Material and methods: 27 polycythemia vera (PV), 14 essential thombocytosis (ET) and 5 primary myelofibrosis (PMF patients (total 46) were included in this study. The number of heathy controls were 32. 17 patients with chronic myelogenous leukemia (CML) an one patient with mast cell leukemia (MHL) were chosen as diseased control group (total 18). JAK2 V617F mutation analysis was performed by Real Time-PCR with the DNA samples extracted from periferal blood.Results: JAK2 V617F positivity was 92.6% in PV, 42.9% in ET and 80% in PMF. When all patients with MPD were taken to consideration, patients that are positive for JAK2 mutation were older (p=0.022) and had higher platelet levels (p=0.042). JAK2 mutant PV and ET patients also showed higher leucocyte levels which was close to significance (p=0.06).Conclusion: JAK2 mutation has taken its place as a standard marker for MPD and has a potential role in anti-neoplastic treatement. Our study about JAK2 mutation in MPD is to be one of the first in our region. Prevalance of this mutation in our study is correlated withathealiteratureafindings.