bcr/abl阴性表达的骨髓增殖性肿瘤患者JAK2V617F基因突变的临床研究

摘要

Objective To investigate the frequency and clinical implication of JAK2V617F gene mutation in patients with bcr/abl- negative myeloproliferative neoplasms (MPN). Methods JAK2V617F mutation was screened by real- time fluorescent PCR in 99 patients with bcr/abl- negative MPN. Results JAK2V617F mutation was detected in 70 of 99 patients with MPN, the frequency rate of mutation was 90.6%(29/32) in patients with polycythemia vera (PV), 62.5%(15/24) in essential thrombocythemia (ET), 60.9%(14/23) in chronic idiopathic myelofibrosis(CIMF) and 60.0%(12/20) in myeloproliferative neoplasma- undifferentiated (MPN- U). The frequency of JAK2V617F mutation in PV patients was significantly higher than that in ET, CIMF, and MPN- U pa-tients (P<0.05 or 0.01). There were significant differences in age, leukocyte counts, and hemoglobin levels between JAK2V617F positive and negative patients (P<0.05 or 0.01). Conclusion JAK2V617F gene mutation is correlated with the classification of MPN, age and blood cells counts. It may be used as a molecular marker for patients with bcr/abl negative MPN.%目的：探讨JAK2V617F基因突变在bcr/abl阴性表达的骨髓增殖性肿瘤（MPN）患者中的发生率及临床意义。方法应用实时荧光PCR法检测99例 bcr/abl阴性表达的MPN患者的JAK2V617F基因突变。结果99例患者中发现70例（70.7%）JAK2V617F基因突变，其中真性红细胞增多症（PV）中突变发生率90.6%（29/32），原发性血小板增多症（ET）中突变发生率62.5%（15/24），慢性特发性骨髓纤维化（CIMF）中突变发生率60.9%（14/23），骨髓增殖性肿瘤未分型（MPN- U）中突变发生率为60.0%（12/20）。PV患者的突变率高于ET、CIMF及MPN- U （P＜0.05或0.01）。JAK2V617F基因突变型患者的年龄大于野生型患者（P＜0.01），血白细胞计数和血红蛋白水平高于野生型患者（P＜0.05或0.01）。结论 bcr/abl阴性的MPN患者JAK2V617F基因突变发生率与疾病类型、年龄、外周血细胞计数相关，可以作为bcr/abl阴性MPN患者主要的分子遗传学异常标志，有助于临床诊断。