骨髓增殖性肿瘤患者JAK2V617F突变负荷与临床特征

JAK2V617F mutation allele burden and clinical characteristics of patients with myeloproliferative neoplasms

目的:应用微滴式数字PCR(ddPCR)检测骨髓增殖性肿瘤(MPNs)患者JAK2V617F突变负荷,研究突变负荷与临床特征的相关性,以及其在MPNs预后判断、疾病进展和疗效评估中的作用。方法:应用ddPCR方法检测42例MPNs患者的JAK2V617F的突变负荷,比较真性红细胞增多症(PV)、原发性血小板增多症(ET)、原发性骨髓纤维化(PMF)组间JAK2V617F突变负荷的差异,分析突变负荷和血栓发生率及临床指标的相关性。结果:ET、PV、PMF三组间突变负荷无统计学差异,血栓组比无血栓组的突变负荷均值高,且差异有统计学意义(P=0.006),突变负荷和血小板计数呈正相关(P=0.049),部分随访患者的突变负荷与疾病进展相关。结论:应用ddPCR对MPNs患者JAK2V617F突变负荷的进行动态定量监测,可能对预后判断、疾病进展和精准疗效评估有积极的作用。

Objective:To detect JAK2 V617 F allele burden in patients with myeloproliferative neoplasms(MPNs) by droplet digital PCT(ddPCR),study the correlation between allele burden and clinical characteristics,and explore the role of the allele burden in early diagnosis,prognosis,disease progression,and efficacy evaluation of MPNs.Methods:The JAK2 V617 F allele burden in 42 MPNs patients was detected by ddPCR.The differences of JAK2 V617 F allele burden among the polycythemia vera(PV),essential thrombocythemia(ET),and primary myelofibrosis(PMF) groups were compared,and the correlation between allele burden and incidence of thrombosis and clinical parameters was analyzed.Results:There were no statistical differences in allele burden among ET,PV,and PMF groups.The mean mutation allele burden of the thrombus group was higher than that of the nonthrombus group,and the differences were statistically significant(P=0.006).The mutation allele burden and the platelet count were positively correlated(P=0.049).Conclusion:The dynamic quantitative monitoring of JAK2 V617 F allele burden in MPNs patients by ddPCR is valuable in early diagnosis,prognosis judgment,disease progression and accurate efficacy evaluation.