骨髓增殖性肿瘤中JAK2V617F突变及其与临床特征的关系

Relationship between JAK2V617F mutations with clinical features in patients with myeloproliferative neoplasms

目的研究JAK2V617F基因突变在骨髓增殖性肿瘤(MPNs)患者中的表达情况、临床特征及治疗效果的相关性,为临床明确诊断、选择最佳治疗方案。方法收集该院2010年1月至2014年12月门诊及住院确诊为BCR/ABL阴性MPNs患者,采用等位基因特异性聚合酶链反应技术检测各组患者JAK2V617F突变,根据情况给予羟基脲和(或)干扰素治疗,定期进行门诊随访。结果 90例MPNs患者中JAK2V617F突变阳性率为63.3%,其中真性红细胞增多症(PV)82.9%、原发性血小板增多症(ET)45.2%、原发性骨髓纤维化(PMF)50.0%、骨髓增殖性肿瘤不能分类(MPN-U)66.7%;PV、ET两组患者JAK2V617F突变阳性率的差异有统计学意义(P<0.05);JAK2V617F突变阳性的PV患者的白细胞、血红蛋白、红细胞计数及并发症的发生率较阴性者高,差异有统计学意义(P<0.05),JAK2V617F突变阳性的ET患者白细胞计数及并发症的发生率较阴性者更高,差异有统计学意义(P<0.05);合并并发症的MPNs患者与无并发症的MPNs患者相比具有更高的白细胞计数,差异有统计学意义(P<0.05);羟基脲对MPNs患者JAK2V617F突变阳性者的治疗有效率更高,羟基脲联合干扰素组的有效率高于单用羟基脲组及单用干扰素组,差异有统计学意义(P<0.05)。结论不同MPNs亚型的JAK2V617F突变发生率存在差异;MPNs患者中JAK2V617F突变与疾病的各项临床特征密切相关;JAK2V617F突变阳性MPNs患者对羟基脲治疗敏感性更高,且羟基脲联合干扰素治疗效果优于单用羟基脲或干扰素。

Objective To study expression of JAK2V617F in patients with myeloproliferative neoplasms （MPNs） and to explore the correlation between JAK2V617F mutations with clinical features in patients with M PNs so as to provide best treatment options for clinical diagnosis .Methods A total of 90 patients who were diagnosed of MPNs for BCR/ABL （ - ） from January 2010 to De-cember 2014 in the hospital were collected .By allele-specific polymerase chain reaction ,JAK2V617F gene mutations were detected . The patients were given the treatment of hydroxyurea ,interferon and hydroxyurea combined with interferon ,the effect were com-pared between the three groups .Results The positive rate of mutations in 90 cases with MPNs was 63 .3% ,which in polycythemia vera （PV） patients ,essential thrombocythemia （ET） patients ,the primary bone marrow fibrosis （PMF） patients and patients with MPN-U were 82 .9% ,45 .2% ,50 .0% and 66 .7% ,respectively .The difference between PV and ET group was statistically signifi-cant （P〈 0 .05） .White blood cell count （WBC） ,hemoglobin（Hb） ,red blood cell count （RBC） and the incidence of complications of PV patients with the JAK2V617F mutation were significantly higher than that of PV patients without JAK2V617F mutation（P〈0 .05） .WBC and the incidence of complications of the ET patients with JAK2V617F mutation were significantly higher than that of ET patients without JAK2V617F mutation （P〈 0 .05） .WBC of MPNs patients with complications were significantly higher than that of MPNs patients without complications （P〈 0 .05） .The effective rate of MPNs patients with JAK2V617F mutation who ac-cepted hydroxyurea treatment was significantly higher than that of patients accepted the treatment of interferon （P〈 0 .05） .And the effective rate of patients who received the treatment of hydroxyurea combination with interferon was significantly higher than the hydroxyurea or the interferon singly （P〈 0 .05） .Conclusion The JAK2V617F mutation rates in subtypes of MPNs are differ-ent .JAK2V617F mutation in MPNs patients is closely related to the clinical features .And patients of M PNs with JAK2V617F mu-tation are more sensitive to hydroxyurea treatment ,and combined use of interferon and hydroxyurea treatment has better effect than use of hydroxyurea or interferon alone .