JAK2V617F mutation is common in old patients with polycythemia vera and essential thrombocythemia

Background: JAK2V617F mutation occurs in 90% of polycythemia vera (PV) and in 50% of essential thrombocythemia (ET) patients. Materials and methods: 253 consecutive patients affected by myeloproliferative disorders (MPD, 121 PV, 132 ET) were evaluated and stratified in 4 age groups: 18–39, 40–59, 60–75 and over 75 years (>75). The JAK2V617F mutation was searched and its allele burden was evaluated. Results: The percentage of mutated patients increased progressively with age mainly in patients >75 (p=0.0015 vs 18–39, p=0.0021 vs 40–59 and p=0.012 vs 60–75). We also found a progressive increase in allele burden with age (R 2 =0.042). Thrombotic events were more common in patients carrying the mutation in comparison with wild type (WT) (p=0.006, coefficient risk 1.94). No differences in the percentage of patients carrying the JAK2V617F mutation were found, in spite of different follow-up durations (15 yrs). The JAK2V617F allele burden was similar in patients with (57±31%) and without (45±26%) long-term hydroxyurea treatment. Conclusions: JAK2V617F mutation is more common in old than in young patients with MPD. Older patients have an higher allele burden.