应用扩增阻碍突变系统检测骨髓增殖性疾病JA砬V617F基因突变的研究

Detection of JAK2 V617F mutation by amplification refractory mutation system in chronic myelo- proliferative disorder

目的探讨JAK2V617F基因突变在恶性血液病中的表达及临床意义。方法运用扩增阻碍突变系统对133例恶性血液病患者进行JAK2V617F基因突变检测分析。结果在133例样本中，60例BCR—ABL融合基因阴性的慢性骨髓增殖性疾病患者存在JAK2V617F基因突变（61．7％），其余血液病未发现该点突变，差异有统计学意义（P〈0．05）。其中真性红细胞增多症、特发性血小板增多症、原发性骨髓纤维化和嗜酸细胞增多症的阳性率分别为89．5％、53．6％、44．4％和25％。检测JAK2V617F基因突变的灵敏性为2％。结论JAK2V617F基因突变在BCR—ABL融合基因阴性的慢性骨髓增殖性疾病患者中广泛表达，尤其以真性红细胞增多症患者发生率最高。扩增阻碍突变系统检测JAK2V617F基因突变具有很好的特异性和灵敏度，可作为临床筛查的检测方法。

Objective To investigate the morbidity and clinical significance of JAK2 V617F mutation in hematological malignancies. Methods The JAK2 V617F mutation was analyzed using ampiification refractory mutation system（ARMS）in 133 patients with hematological malignancies. Results Of the 133 patients,the JAK2 V617F mutation was only detected in 60 patients with chronic myeloproliferative disorder（MPD） ,which were BCR/ABL negative. The morbidiy of JAK2 V617F mutation in MPD was significantly higher than that of other hematological malignancies （ 61.7% vs0%, P 〈 0.05 ）. In BCR/ABL negative patients, the morbidity of JAK2 V617F mutation in polycythemia vera（ PV）, essential thrombocythemia （ ET）, idiopathic myelofibrosis （IMF） and hypereosinophilic syndrome （ HES ） was 89.5 %, 53.6 %, 44.4% ,25% respectively. The sensitivity of ARMS for the detection of JAK2 V617F mutation was 2%. Conclusion The JAK2 V617F mutation is widespread in BCR/ABL negative MPD especially in PV. ARMS is high specificity and sensitivity to detect JAK2 V617F mutation and can be used as a clinical screening method for MPD.