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 (<5 yrs, 5-10 yrs, 10-15 yrs, >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.

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

RANDI, MARIA LUIGIA;DUNER, ELENA;FABRIS, FABRIZIO
2011

Abstract

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 (<5 yrs, 5-10 yrs, 10-15 yrs, >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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/2489867
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