Iványi János László, Marton Eva, Plander Márk
Markusovszky Kórház, Hematológiai Osztály, Szombathely Markusovszky u. 5. 9700.
Orv Hetil. 2011 Nov 6;152(45):1795-803. doi: 10.1556/OH.2011.29226.
In Philadelphia chromosome-negative chronic myeloproliferative neoplasia, i.e. polycythemia vera, essential thrombocythemia and primary idiopathic myelofibrosis enhanced risk of thrombosis could be connected with Janus kinase 2 gene mutation occurring in various frequency in these diseases (JAK2V617F). Since 2002 the presence of JAK2 mutation in chronic myeloproliferative neoplasia has been regularly detected.
In a retrospective survey the possible connection between JAK2 mutation and thrombosis was analyzed in patients with chronic myeloproliferative neoplasia subgroups cared and treated in their hospital and outpatient departments.
Between 2007-2010 peripheral blood samples of 171 patients with chronic myeloproliferative neoplasia (68 patients of polycythemia vera, 84 of essential thrombocythemia and 19 ones with primary idiopathic myelofibrosis) were sent to several molecular biological laboratories, where V617F mutation from DNA specimens was detected by allele-specific polymerase chain reaction, as well. Thromboembolic complications (arterial, i.e. cerebro-and cardiovascular and venous thrombosis) occurred during course of illness of patients were registered. Statistical analysis was made by statistical software program for Windows.
JAK2 mutation in 53 patients with polycythemia vera (77.9%) was detected, whilst in essential thrombocythemia 55 patients (65.4%) and in primary idiopathic myelofibrosis 7 patients (36.8%) proved to be JAK2 positive. In 18 JAK2 positive patients of polycythemia vera thromboembolic episodes were observed (18/53, 33.9%), whilst in essential thrombocythemia JAK2 mutational status was accompanied with thromboembolic events in 17/55 patients (30.9%). In the 7 JAK2 positive ones with primary idiopathic myelofibrosis thrombotic complication did not occurred. However, in JAK2 negative cases thrombotic events could also be detected (from 10 JAK2 negative patients with polycythemia vera in four ones, and in six with JAK2 negative 23 essential thrombocythemic patients.
Incidence of the JAK2 mutation in their patients with chronic myeloproliferative neoplasia subgroups mainly corresponds to the literary data. Thrombosis ensued both in JAK positive polycythemia vera and essential thrombocythemia cases occurred nearly in the same number, but the incidence of thrombosis ensued in JAK2 negative cases did not differ significantly from the JAK2 positive patients. From these results it could be suggested that the presence or absence of JAK2 mutation in the development of thrombosis has no predictive value in patients with chronic myeloproliferative neoplasia.
在费城染色体阴性的慢性骨髓增殖性肿瘤中，即真性红细胞增多症、原发性血小板增多症和原发性特发性骨髓纤维化，血栓形成风险增加可能与这些疾病中以不同频率出现的Janus激酶2基因突变（JAK2V617F）有关。自2002年以来，慢性骨髓增殖性肿瘤中JAK2突变的存在一直被定期检测到。
在一项回顾性调查中，分析了在医院和门诊接受治疗的慢性骨髓增殖性肿瘤亚组患者中JAK2突变与血栓形成之间的可能联系。
2007年至2010年期间，将171例慢性骨髓增殖性肿瘤患者（68例真性红细胞增多症患者、84例原发性血小板增多症患者和19例原发性特发性骨髓纤维化患者）的外周血样本送至多个分子生物学实验室，通过等位基因特异性聚合酶链反应检测DNA样本中的V617F突变。记录患者病程中发生的血栓栓塞并发症（动脉性，即脑血管和心血管以及静脉血栓形成）。使用Windows统计软件程序进行统计分析。
在53例真性红细胞增多症患者（77.9%）中检测到JAK2突变，而在原发性血小板增多症患者中有55例（65.4%），原发性特发性骨髓纤维化患者中有7例（36.8%）被证明JAK2呈阳性。在18例JAK2阳性的真性红细胞增多症患者中观察到血栓栓塞事件（18/53，33.9%），而在原发性血小板增多症中，17/55例患者（30.9%）的JAK2突变状态伴有血栓栓塞事件。在7例JAK2阳性的原发性特发性骨髓纤维化患者中未发生血栓形成并发症。然而，在JAK2阴性病例中也可检测到血栓形成事件（在10例JAK2阴性的真性红细胞增多症患者中有4例，在23例JAK2阴性的原发性血小板增多症患者中有6例）。
慢性骨髓增殖性肿瘤亚组患者中JAK2突变的发生率主要与文献数据相符。JAK阳性的真性红细胞增多症和原发性血小板增多症病例中发生血栓形成的数量几乎相同，但JAK2阴性病例中血栓形成的发生率与JAK2阳性患者相比无显著差异。从这些结果可以推测，JAK2突变的有无在慢性骨髓增殖性肿瘤患者血栓形成的发展中没有预测价值。
