JAK2V617F基因突变与骨髓增殖性肿瘤疾病类型及疾病转化的相关性分析

JAK2V617F Mutation Correlated with Disease Classification and Conversion in Patients with Myeloproliferative Neoplasm

目的研究骨髓增殖性肿瘤(MPN)中JAK2V617F基因突变与疾病类型及疾病转化的相关性。方法检测我区134例MPN患者JAK2V617F基因,分析基因突变在真性红细胞增多症(PV)、原发性血小板增多症(ET)、原发性骨髓纤维化(IMF)3种MPN亚型中的发生率及其与疾病转化的相关性。结果 (1)134例MPN患者中PV 51例、ET 66例、IMF 17例,存在JAK2V617F基因突变98例(73.1%),且在PV中发生率(84.3%)高于ET(69.7%)及IMF(52.9%)的发生率(P<0.05),而后两者比较差异无统计学意义(P>0.05)。汉族与维吾尔族突变率比较,差异无统计学意义(P>0.05),在55例维吾尔族患者中,JAK2V617F基因突变的发生率在3种疾病的分布与总体一致,PV(93.8%)高于ET(60.0%)和IMF(33.3%)(P<0.05),后两者比较差异无统计学意义(P>0.05)。(2)134例MPN患者中发生疾病转化者12例(8.9%),其中PV转骨髓纤维化(MF)7例,ET转MF 3例,PV转ET 1例,MF转急性白血病1例。JAK2V617F基因突变阳性者发生疾病转化8例(8.2%);突变阴性者发生转化4例(11.1%),差异无统计学意义(P>0.05)。结论 MPN患者JAK2V617F基因突变发生率与疾病类型有关,且维吾尔族患者也符合基因突变发生率在疾病中的分布规律。MPN患者疾病可以发生转化,JAK2V617F基因突变与疾病的转化无相关性,因此JAK2V617F基因突变对MPN尤其是PV的诊断有一定帮助,但对疾病转化及预后是否有提示性有待于进一步研究证实。

Objective To investigate the correlation between JAK2V617F mutation and the disease classification and conversions in patients with myeloproliferative neoplasm （MPN） in Xinjiang area. Methods The JAK2V617F gene was detected in 134 MPN patients. The correlation between JAK2V617F mutation and the MPN classification and conversions were analyzed. Results Of these 134 patients, three MPN subtypes including polythythemia vera （PV） （ n = 51 ）, etiologic thrombocy- themia （ET） （ n =66）, and idiopathic （primary） myelofibrosis （IMF） （ n = 17） were identified. JAK2V617F mutation was detected in 98 cases （73.1%）. The frequency of JAK2V617F mutation in PV patients （84. 3% ） was significantly higher than that in ET （69. 7% ） and IMF （52. 9% ） patients （P 〈 0. 05）. The difference between the latter was not significant （P 〉 0. 05）. There was no significant difference between JAK2V617F positive and negative patients in terms of ethnic group （P 〉 0. 05 ）. In 55 Uyghur patients, the frequency of JAK2V617F mutation showed similar trend： it was significantly higher in PV patients （93.8%） was than in ET （60. 0%） and IMF （33.3%） patients （P 〈0. 05）. Among these 134 cases, 12 （8.9%） experienced disease conversions： 7 patients were transverted from PV to MF, 3 from ET to MF, 1 from PV to ET, and 1 from MF to M2a. There was no significant difference in conversions of disease with JAK2V617F mutation or without it. Conclusion JAK2V617F mutation is correlated with the classification of MPN, which is equally seen in Uyghur populations. In addition, MPN can be transformed to others, but the conversions are not correlated with JAK2V617F mutation. Therefore, JAK2V617F mutation may be helpful for the diagnosis of MPN, especially PV.