Division of Vascular Medicine, Department of Internal Medicine, J.W. Goethe University Hospital Frankfurt/Main, Germany.
Thromb Res. 2012 Jun;129(6):720-4. doi: 10.1016/j.thromres.2011.09.011. Epub 2011 Oct 7.
Splanchnic vein thrombosis (SVT) is a typical manifestation of polycythaemia vera (PV) or essential thrombocythaemia (ET). The recently discovered JAK2V617F somatic mutation is closely associated with chronic myeloproliferative disease (CMD). We investigated whether thrombosis involving the inferior vena cava (IVC) is also related to the JAK2V617F mutation or CMD.
Blood samples were obtained from 40 IVC thrombosis patients. Fifty-three patients with isolated lower extremity deep vein thrombosis (LE-DVT) and 20 SVT patients served as controls. The presence of the JAK2V617F mutation was assessed by real-time polymerase chain reaction (RT-PCR).
The JAK2V617F allele was not detected in any of the IVC thrombosis patients but was detected in one patient (2%) with isolated LE-DVT. However, the mutation-carrying patient did not exhibit symptoms of CMD. Even after an observation period of 30months, the patient's complete blood cell count did not exhibit any pathology. In contrast, the JAK2V617F allele was detected in four patients with SVT (20%) and CMD.
According to our data, there is no evidence that IVC thrombosis is associated with the JAK2V617F mutation or the presence of chronic myeloproliferative disease.
内脏静脉血栓形成（SVT）是真性红细胞增多症（PV）或特发性血小板增多症（ET）的典型表现。最近发现的 JAK2V617F 体细胞突变与慢性骨髓增生性疾病（CMD）密切相关。我们研究了下腔静脉（IVC）血栓形成是否也与 JAK2V617F 突变或 CMD 有关。
采集 40 例 IVC 血栓形成患者的血液样本。53 例下肢深静脉血栓形成（LE-DVT）患者和 20 例 SVT 患者作为对照组。采用实时聚合酶链反应（RT-PCR）检测 JAK2V617F 突变。
IVC 血栓形成患者中均未检测到 JAK2V617F 等位基因，但在 1 例孤立性 LE-DVT 患者中检测到该等位基因（2%）。然而，突变携带者并未出现 CMD 症状。即使在 30 个月的观察期内，患者的全血细胞计数也未出现任何异常。相比之下，在 4 例 SVT（20%）和 CMD 患者中检测到 JAK2V617F 等位基因。
根据我们的数据，没有证据表明 IVC 血栓形成与 JAK2V617F 突变或慢性骨髓增生性疾病有关。
