Université Côte D'Azur, Nice, France.
Department of Internal Medicine, Nice University Hospital, Nice, France.
J Thromb Thrombolysis. 2020 Nov;50(4):995-1003. doi: 10.1007/s11239-020-02100-z.
To determine the prevalence of the V617F Janus Kinase 2 (JAK2) mutation in patients with thrombosis without other biological signs of underlying myeloproliferative neoplasm (MPN) and identify associated risk factors for thrombosis. Over a 10-year period, data were collected from patients with thrombotic events and who had also been screened for the V617F JAK2 mutation. Patients with signs of underlying MPN, such as haematocrit levels ≥ 50% and/or platelet counts ≥ 450 × 10/L and/or splanchnic thrombosis were excluded from the study. Of 340 patients fulfilling inclusion criteria, JAK2 mutation was found in 9 (2.65%), the allele burden being at least 2% in 4 (1.1%). Upon follow-up, MPN was diagnosed in the latter 4. Univariate analysis of the whole cohort showed that age (54 ± 15 vs. 64 ± 13, p = 0.027), platelet count (317 ± 111 vs. 255 ± 75, p = 0.017), C-reactive protein level > 5 mg/L (OR 7.29, p = 0.014), and splenomegaly (OR 54.5, p = 0.0002) were significantly associated with JAK2 mutation. There was also a trend for an increased risk of cerebral venous thrombosis (OR 6.54, p = 0.064). Logistic regression confirmed a significant association between splenomegaly and JAK2 mutation (OR 43.15 [95%CI, 3.05-610.95], p = 0.0054). The V617F JAK2 mutation is rarely found in patients with thrombotic events without overt MPN. Splenomegaly, however, is a statistically and clinically relevant indicator of a potential JAK2 mutation in patients with non-splanchnic thrombotic events. Such patients should require further assessment and a close follow-up.
为了确定无其他骨髓增殖性肿瘤（MPN）生物学标志的血栓形成患者中 V617F 姜素激酶 2（JAK2）突变的流行率，并确定血栓形成的相关危险因素。在 10 年期间，从有血栓形成事件的患者和已筛选 V617F JAK2 突变的患者中收集数据。排除有 MPN 潜在迹象的患者，例如血球比容水平≥50%和/或血小板计数≥450×10/L 和/或内脏血栓形成。在符合纳入标准的 340 名患者中，发现 JAK2 突变 9 例（2.65%），4 例（1.1%）至少有 2%的等位基因负担。在后续随访中，后 4 例被诊断为 MPN。对整个队列的单变量分析表明，年龄（54±15 岁 vs. 64±13 岁，p=0.027）、血小板计数（317±111 比 255±75，p=0.017）、C-反应蛋白水平>5mg/L（OR7.29，p=0.014）和脾肿大（OR54.5，p=0.0002）与 JAK2 突变显著相关。大脑静脉血栓形成的风险也有增加的趋势（OR6.54，p=0.064）。逻辑回归证实脾肿大与 JAK2 突变之间存在显著相关性（OR43.15[95%CI，3.05-610.95]，p=0.0054）。在无明显 MPN 的血栓形成患者中很少发现 V617F JAK2 突变。然而，脾肿大是无内脏血栓形成患者潜在 JAK2 突变的统计学和临床相关指标。此类患者应需要进一步评估和密切随访。
