Background: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients.Methods: The frequency of JAK2-V617F mutation in patients with polycy-thaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay. Results: The JAK2-V617F mutation could be detected in 28 of 33 polycythae-mia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17%; P = 0.22). Conclusion: The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.
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机译：背景：最近在患有骨髓增生性疾病（MPD）的患者中报道了Janus激酶2（JAK-2）V617F突变，据信这是这些疾病中造血祖细胞显示的生长因子超敏性的基础。方法：在108例患者外周血白细胞DNA中测定真性红细胞增多症，原发性血小板增多症和特发性骨髓纤维化（IMF）患者JAK2-V617F突变的频率。通过基因组聚合酶链反应和限制性内切酶分析。结果：JAK2-V617F突变可在33例真性红细胞增多症患者中检出28（85％），49例原发性血小板增多症患者中的29（59％）和6例IMF患者中的2（33％）未检出。骨髓增生异常综合症11例或其他血液系统疾病10例。 JAK2突变的存在与特定的MPD疾病亚型（P = 0.007），疾病持续时间较长（P = 0.005），脾肿大（P = 0.019），白细胞计数较高（P = 0.002）和血红蛋白较高有关水平（P = 0.036）。但是，JAK2突变的存在不会影响血栓形成或出血的总体风险（32 vs 17％; P = 0.22）。结论：台湾地区患有MPD障碍的患者经常可以检测到JAK2-V617F突变，因此应将其纳入对MPD怀疑患者的初步评估中。
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