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

Valerio de Stefano (1) , Tommaso Za (1) , Elena Rossi (1) , Alessandro M. Vannucchi (2) , Marco Ruggeri (3) , Elena Elli (4) , Caterina Micò (5) , Alessia Tieghi (6) , Rossella R. Cacciola (7) , Cristina Santoro (8) , Nicola Vianelli (9) , Paola Guglielmelli (2) , Lisa Pieri (2) , Francesca Scognamiglio (3) , Emma Cacciola (7) , Francesco Rodeghiero (3) , Enrico M. Pogliani (4) , Guido Finazzi (5) , Luigi Gugliotta (6) , Giuseppe Leone (1) , Tiziano Barbui (5)

1 Institute of Hematology
2 The Department of Hematology
3 The Hematology Department and Hemophilia and Thrombosis Center
4 The Hematology Division and Bone Marrow Transplantation Unit, San Gerardo Hospital
5 The Department of Hematology−Oncology
6 The Hematology Unit
7 The Department of Biomedical Sciences, Section of Hematology
8 The Institute of Hematology, Department of Cellular Biotechnology and Hematology
9 The Institute of Hematology and Oncology L. and A. Seràgnoli

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.

Mots clés: Essential thrombocythemia; JAK2 V617F mutation; Recurrent thrombosis

Valerio de Stefano, Tommaso Za, Elena Rossi, Alessandro M. Vannucchi, Marco Ruggeri, et al.. Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. Annals of Hematology, 2009, 89 (2), pp.141-146. ⟨10.1007/s00277-009-0788-5⟩. ⟨hal-00535077⟩