Institute of Hematology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
Ann Hematol. 2010 Feb;89(2):141-6. doi: 10.1007/s00277-009-0788-5. Epub 2009 Jul 7.
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.
证据表明，JAK2 V617F 突变与原发性血小板增多症（ET）患者首次血栓形成风险增加相关。该突变是否也是复发性血栓形成的危险因素尚不清楚。为了研究 JAK2 V617F 突变对 ET 患者复发性血栓形成风险的影响，我们进行了一项多中心回顾性队列研究。我们招募了 143 例先前有动脉（64.4%）或静脉重大血栓形成（34.8%）或两者均有（0.8%）的患者；其中 98 例（68.5%）携带该突变。43 例患者发生了血栓复发（30%）；总体而言，在校正性别、年龄、血管危险因素存在情况以及首次血栓形成后的治疗后，JAK2 突变的存在并不能预测复发（多变量风险比，HR，0.88，95%CI 0.46-1.68）。实际上，与野生型患者相比，JAK2 V617F 突变纯合子（等位基因负担>50%）的个体复发风险增加（HR 6.15，95%CI 1.51-24.92）。总之，JAK2 V617F 突变纯合子是 ET 患者复发性血栓形成的独立危险因素。
