Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation

Valerio De Stefano, Tommaso Za, Elena Rossi, Alessandro M. Vannucchi, Marco Ruggeri, Elena Elli, Caterina Micò, Alessia Tieghi, Rossella R. Cacciola, Cristina Santoro, Nicola Vianelli, Paola Guglielmelli, Lisa Pieri, Francesca Scognamiglio, Emma Cacciola, Francesco Rodeghiero, Enrico M. Pogliani, Guido Finazzi, Luigi Gugliotta, Giuseppe LeoneTiziano Barbui

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)141-146
Number of pages6
JournalAnnals of Hematology
Volume89
Issue number2
DOIs
Publication statusPublished - Feb 2010

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Keywords

  • Essential thrombocythemia
  • JAK2 V617F mutation
  • Recurrent thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

De Stefano, V., Za, T., Rossi, E., Vannucchi, A. M., Ruggeri, M., Elli, E., Micò, C., Tieghi, A., Cacciola, R. R., Santoro, C., Vianelli, N., Guglielmelli, P., Pieri, L., Scognamiglio, F., Cacciola, E., Rodeghiero, F., Pogliani, E. M., Finazzi, G., Gugliotta, L., ... Barbui, T. (2010). Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. Annals of Hematology, 89(2), 141-146. https://doi.org/10.1007/s00277-009-0788-5