文章：

JAK2V617F变异等位基因频率>50%可识别出静脉血栓高风险的真性红细胞增多症患者

JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis

原文发布日期：2021-12-11

DOI: 10.1038/s41408-021-00581-6

类型: Article

开放获取: 是

英文摘要：

Arterial (AT) and venous (VT) thrombotic events are the most common complications in patients with polycythemia vera (PV) and are the leading causes of morbidity and mortality. In this regard, the impact of JAK2V617F variant allele frequency (VAF) is still debated. The purpose of the current study was to analyze the impact of JAK2V617F VAF in the context of other established risk factors for thrombosis in a total of 865 2016 WHO-defined PV patients utilizing two independent cohorts: University of Florence (n = 576) as a training cohort and Policlinico Gemelli, Catholic University, Rome (n = 289) as a validation cohort. In the training cohort VT free-survival was significantly shorter in the presence of a JAK2V617F VAF > 50% (HR 4; p < 0.0001), whereas no difference was found for AT (HR 0.9; p = 0.8). Multivariable analysis identified JAK2V617F VAF > 50% (HR 3.8, p = 0.001) and previous VT (HR 2.2; p = 0.04) as independent risk factors for future VT whereas diabetes (HR 2.4; p = 0.02), hyperlipidemia (HR 2.3; p = 0.01) and previous AT (HR 2; p = 0.04) were independent risk factors for future AT. Similarly, JAK2V617F VAF > 50% (HR 2.4; p = 0.01) and previous VT (HR 2.8; p = 0.005) were confirmed as independent predictors of future VT in the validation cohort. Impact of JAK2V617F VAF > 50% on VT was particularly significant in conventional low-risk patients, both in Florence (HR 10.6, p = 0.005) and Rome cohort (HR 4; p = 0.02). In conclusion, we identified JAK2V617F VAF > 50% as an independent strong predictor of VT, supporting that AT and VT are different entities which might require distinct management.
 

摘要翻译： 

动脉血栓（AT）与静脉血栓（VT）事件是真性红细胞增多症（PV）患者最常见的并发症，也是导致发病和死亡的主要原因。对此，JAK2V617F变异等位基因频率（VAF）的影响仍存在争议。本研究旨在结合其他已明确的血栓风险因素，分析JAK2V617F VAF对血栓形成的影响。研究共纳入865例符合2016年WHO诊断标准的PV患者，采用两个独立队列：佛罗伦萨大学队列（n=576）作为训练队列，罗马天主教大学杰梅利综合医院队列（n=289）作为验证队列。在训练队列中，JAK2V617F VAF > 50%的患者无静脉血栓生存期显著缩短（HR 4；p < 0.0001），而动脉血栓方面未见差异（HR 0.9；p = 0.8）。多变量分析显示，JAK2V617F VAF > 50%（HR 3.8，p = 0.001）和既往静脉血栓病史（HR 2.2；p = 0.04）是未来发生静脉血栓的独立危险因素；而糖尿病（HR 2.4；p = 0.02）、高脂血症（HR 2.3；p = 0.01）和既往动脉血栓病史（HR 2；p = 0.04）是未来发生动脉血栓的独立危险因素。同样，在验证队列中，JAK2V617F VAF > 50%（HR 2.4；p = 0.01）和既往静脉血栓病史（HR 2.8；p = 0.005）也被确认为未来静脉血栓的独立预测因素。JAK2V617F VAF > 50%对静脉血栓的影响在常规低危患者中尤为显著，在佛罗伦萨队列（HR 10.6，p = 0.005）和罗马队列（HR 4；p = 0.02）中均得到验证。总之，本研究确定JAK2V617F VAF > 50%是静脉血栓的一个独立强预测因子，支持动脉血栓与静脉血栓属于不同实体，可能需要采取差异化的管理策略。

原文链接：

JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis