Annals of hematology · 2009
Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation.
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De Stefano Valerio, Za Tommaso, Rossi Elena, Vannucchi Alessandro M, Ruggeri Marco, Elli Elena, Micò Caterina, Tieghi Alessia, Cacciola Rossella R, Santoro Cristina, Vianelli Nicola, Guglielmelli Paola, Pieri Lisa, Scognamiglio Francesca, Cacciola Emma, Rodeghiero Francesco, Pogliani Enrico M, Finazzi Guido, Gugliotta Luigi, Leone Giuseppe, Barbui Tiziano, GIMEMA Chronic Myeloproliferative Neoplasms Working Party
Аннотация
Evidence suggests that the JAK2 V617F mutation is associated with an increased risk of first thrombosis in patients with essential thrombocythemia (ET). Whether this mutation is also a risk factor for recurrent thrombosis is currently unknown. To investigate the impact of the JAK2 V617F mutation on the risk of recurrent thrombosis in patients with ET, we carried out a multicentre retrospective cohort study. We recruited 143 patients with previous arterial (64.4%) or venous major thrombosis (34.8%) or both (0.8%); 98 of them (68.5%) carried the mutation. Thrombosis recurred in 43 of the patients (30%); overall, after adjustment for sex, age, presence of vascular risk factors, and treatment after the first thrombosis, the presence of the JAK2 mutation did not predict recurrence (multivariable hazard ratio, HR, 0.88, 95% CI 0.46-1.68). Indeed, the individuals homozygous for the JAK2 V617F (allele burden >50%) mutation had an increased risk of recurrence in comparison with wild-type patients (HR 6.15, 95% CI 1.51-24.92). In conclusion, a homozygous JAK2 V617F mutation is an independent risk factor for recurrent thrombosis in patients with ET.