4th Palermo Conference on INNOVATIVE THERAPIES FOR LYMPHOID MALIGNANCIES
Published online 31 March 2009
Haematologica, Vol 94, Issue 5, 733-737 doi:10.3324/haematol.13869
Copyright © 2009 by Ferrata Storti Foundation
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Myeloproliferative Neoplasms

Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia

Valerio De Stefano, Tommaso Za, Elena Rossi, Alessia Fiorini, Angela Ciminello, Claudia Luzzi, Patrizia Chiusolo, Simona Sica, Giuseppe Leone

Institute of Hematology, Catholic University, Rome

Correspondence: Valerio De Stefano, Institute of Hematology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy. E-mail:valerio.destefano{at}rm.unicatt.it

It is uncertain whether the JAK2 V617F mutation increases the thrombotic risk in patients with essential thrombocythemia, and it is unknown whether inherited thrombophilia is an additive risk factor in mutated subjects. We studied 132 patients with essential thrombocythemia, 38 of them (29%) with a history of thrombosis. The JAK2 mutation was present in 83 (63%), and inherited thrombophilia in 7. The mutated patients <60 years had a relative risk (RR) for thrombosis at any time of 3.83 (95%CI 1.27–11.49) in comparison with wild-type patients; in those with both the mutation and thrombophilia the RR was 2.23 (95%CI 1.57–3.18) and 7.66 (95%CI 2.66–22.03) in comparison with mutated or wild-type patients without thrombophilia, respectively. During the follow-up, only the homozygotes for JAK2 V617F were more prone to thrombosis (RR 17.25, 95%CI 2.33–127.4). Among the patients >60 years, no increase in RR was associated with the JAK2 mutation. In conclusion, in the younger patients with ET the thrombotic risk is higher in the JAK2 V617F-mutated and is further increased by the presence of inherited thrombophilia.

Key words: essential thrombocythemia, thrombosis, JAK2 V617F mutation, inherited thrombophilia.




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