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

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, 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.