JAK2V617F基因突变在骨髓增生性疾病中的发生率及其临床意义

Incidence of JAK2V617F mutation in myeloproliferative diseases and its clinical significance

目的:探讨JAK2V617F基因突变在骨髓增生性疾病(MPD)中的发生率及其与血液学变化的相关性。方法:68例MPD患者骨髓及外周血细胞抽提DNA,应用等位基因特异性PCR技术,检测JAK2V617F基因突变,对突变基因进行序列分析,结合临床资料以及外周血细胞计数作进一步分析。结果:68例MPD患者中JAK2V617F突变的阳性率为65.28%,其中真性红细胞增多症(PV)患者阳性率为77.77%(28?36例),原发性血小板增多症(ET)患者阳性率为56.52%(13?23例),慢性骨髓纤维化(IMF)患者阳性率为44.44%(4?9例)。各组患者骨髓及外周血JAK2V617F基因突变阳性率大致相同。PV突变阳性患者的白细胞计数及血红蛋白较突变阴性患者高,差异具有统计学意义(P<0.05);ET突变阳性患者的白细胞计数较突变阴性患者的高,差异具有统计学意义(P<0.05)。结论:JAK2V617F基因突变有助于BCR/ABL阴性的MPD的诊断。JAK2V617F突变对血液学特征有一定影响。

Objective： To investigate the incidence of JAK2V617F gene point mutation in patients with myeloproliferatives diseases（MPD） and its clinical significance.Methods： Genomic DNA from bone marrow and peripheral blood cells were extracted from 68 patients with MPD.Allele specific polymerase chain reaction was used to amplify the exon 12 of JAK2 gene which harbours V617F mutation.The PCR products were identified by DNA sequencing.JAK2V617F gene point mutation and its impact on peripheral blood cells were analyzed.Results： The incidence of JAK2V617F mutation in 68 patients with MPD was 65.28%.The positive rate of JAK2V617F point mutation was 77.77% in patients with PV（36/59）,56.52% in patients with ET（23/59） and 44.44% in patients with IMF（4/9）.In all groups,the incidence of JAK2V617F point mutation in bone marrow and peripheral blood were equal.Patients with JAK2V617F mutation in PV group had higher counts of white blood cell and hemoglobin in peripheral blood than patients without JAK2V617F point mutation（P0.05）.Patients with JAK2V617F mutation in ET group had higher counts of white blood cell than those without JAK2V617F mutation（P0.05）;there was no significant difference in platelet count.Conclusion： JAK2V617F point mutation can affect the hematologic features,which may be of diagnostic value for MDP with negative BCR-ABL gene.