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

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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.

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Correspondence to Valerio De Stefano.

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Authors are affiliated with the Chronic Myeloproliferative Neoplasms Working Party of the Gruppo Italiano Malattie Ematologiche dell’Adulto (GIMEMA). All the members of the Working Party are listed in the Appendix.

Appendix

Appendix

Investigators and institutions of the Chronic Myeloproliferative Neoplasms—Working Party of the Gruppo Italiano Malattie Ematologiche dell’Adulto (GIMEMA) that participated in this research.

Chairman: T. Barbui; Study Coordinator: V. De Stefano; Participating Centers: Institute of Hematology, Catholic University, Rome: V. De Stefano, E. Rossi, T. Za, A. Fiorini, G. Leone; Department of Hematology, University of Florence, Florence: A.M. Vannucchi, P. Guglielmelli, L. Pieri, A. Bosi; Hematology Department and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza: M. Ruggeri, F. Scognamiglio, F. Rodeghiero; Hematology Division and Bone Marrow Transplantation Unit, San Gerardo Hospital, University of Milano-Bicocca, Monza: E. Elli, E.M. Pogliani; Department of Hematology–Oncology, Ospedali Riuniti, Bergamo: C. Micò, G. Finazzi, T. Barbui; Hematology Unit, Santa Maria Nuova Hospital, Reggio Emilia: A. Tieghi, L. Gugliotta; Department of Biomedical Sciences, Section of Hematology, University of Catania, Catania: R.R. Cacciola, E. Cacciola, R. Giustolisi; Institute of Hematology, Department of Cellular Biotechnology and Hematology, University La Sapienza, Rome: C. Santoro, M.G. Mazzucconi; Institute of Hematology and Oncology L. and A. Seràgnoli, University of Bologna, Bologna: A. Lucchesi, N. Vianelli.

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De Stefano, V., Za, T., Rossi, E. et al. Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. Ann Hematol 89, 141–146 (2010). https://doi.org/10.1007/s00277-009-0788-5

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  • DOI: https://doi.org/10.1007/s00277-009-0788-5

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