De Stefano Valerio, Za Tommaso, Rossi Elena, Fiorini Alessia, Ciminello Angela, Luzzi Claudia, Chiusolo Patrizia, Sica Simona, Leone Giuseppe
Institute of Hematology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy.
Haematologica. 2009 May;94(5):733-7. doi: 10.3324/haematol.13869. Epub 2009 Mar 31.
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.
JAK2 V617F突变是否会增加原发性血小板增多症患者的血栓形成风险尚不确定，并且遗传性易栓症在突变患者中是否为附加风险因素也不清楚。我们研究了132例原发性血小板增多症患者，其中38例（29%）有血栓形成病史。JAK2突变存在于83例（63%）患者中，遗传性易栓症存在于7例患者中。与野生型患者相比，年龄<60岁的突变患者在任何时候发生血栓形成的相对风险（RR）为3.83（95%CI 1.27 - 11.49）；与无易栓症的突变或野生型患者相比，同时存在突变和易栓症的患者RR分别为2.23（95%CI 1.57 - 3.18）和7.66（95%CI 2.66 - 22.03）。在随访期间，只有JAK2 V617F纯合子更易发生血栓形成（RR 17.25，95%CI 2.33 - 127.4）。在年龄>60岁的患者中，RR增加与JAK2突变无关。总之，在年轻的原发性血小板增多症患者中，JAK2 V617F突变者血栓形成风险更高，且遗传性易栓症的存在会进一步增加该风险。
