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目的探讨慢性骨髓增殖性疾病(MPD)患者中JAK2V617F基因突变的发生率。方法 25例MPD患者骨髓或外周血标本应用等位基因特异性PCR技术检测JAK2V617F基因突变。阳性者说明该基因突变存在。结果 25例MPD患者中JAK2V617F基因突变率为72%,其中真性红细胞增多症(PV)阳性率为92.3%(12/13),原发性血小板增多症(ET)阳性率为50%(6/12)。结论 JAK2V617F基因突变检测有助于BCR/ABL阴性的MPD的诊断,使MPD能够早期发现和治疗,预防和减少血栓或出血事件发生。
Objective To investigate the incidence of JAK2V617F mutation in patients with chronic myeloproliferative disorders (MPD). Methods 25 cases of MPD patients with bone marrow or peripheral blood samples using allele-specific PCR detection JAK2V617F gene mutation. Positives indicate the presence of this gene mutation. Results The mutation rate of JAK2V617F in 25 MPD patients was 72%. The positive rate of polycythemia vera (PV) was 92.3% (12/13) and the rate of primary thrombocythemia (ET) was 50% (6 / 12). Conclusions The detection of JAK2V617F gene mutation contributes to the diagnosis of BCR / ABL-negative MPD. MPD can be detected and treated early to prevent and reduce the occurrence of thrombus or hemorrhage.