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目的:对骨髓增殖性肿瘤(MPN)患者进行JAK2V617F及TET2突变检测,探讨其在MPN患者中的发生率及临床意义。方法:用等位基因特异性聚合酶链反应(AS-PCR)检测37例MPD患者的JAK2V617F点突变,并用AS-PCR扩增产物后测序的方法检测这些患者的TET2突变,分析突变状态与MPN临床及实验室特征之间的关系。结果:MPN患者中JAK2V617F基因突变阳性率为59.5%(22/37),TET2基因缺失或突变阳性率为21.6%(8/37),JAK2V617F基因突变与TET2基因突变同时阳性的发生率为16.2%(6/37)。MPN各型之间JAK2V617F突变阳性率差异有统计学意义(P<0.05)。结论:JAK2V617F基因突变及TET2基因突变可能是两种不同的克隆途径,TET2有可能成为MPN的分子诊断标准之一。。
Objective: To detect the mutations of JAK2V617F and TET2 in patients with myeloproliferative neoplasm (MPN) and investigate the incidence and clinical significance of JAK2V617F and TET2 in patients with MPN. Methods: JAK2V617F point mutation was detected by allele-specific polymerase chain reaction (AS-PCR) in 37 patients with MPD. TET2 mutation was detected by AS-PCR amplification products and sequenced. The relationship between the mutation and MPN Relationship between clinical and laboratory characteristics. Results: The positive rate of JAK2V617F gene mutation in MPN patients was 59.5% (22/37), the positive rate of TET2 gene deletion or mutation was 21.6% (8/37) in MPN patients. The positive rate of JAK2V617F gene mutation and TET2 gene mutation was 16.2% (6/37). The positive rate of JAK2V617F mutation between MPN types was statistically significant (P <0.05). Conclusion: JAK2V617F gene mutation and TET2 gene mutation may be two different cloning routes. TET2 may be one of the molecular diagnostic criteria for MPN. .