【摘要】 目的讨论JAK2V617F基因突变在骨髓增生性疾病(MPD)中的发生率与血液学变化、临床表现的相关性,分析JAK2V617F突变对MPD诊断、预后判断的意义。方法 30例MPD患者检测JAK2V617F基因突变,结合患者的临床资料以及外周血常规以及血栓性事件的发生率以及彩超检查的脾脏大小作进一步分析。结果 30例MPD患者JAK2V617F基因突变率为70%,其中真性红细胞增多症(PV)患者阳性率为77.8%(14/18),原发性血小板增多症(ET)患者阳性率为62.5%(5/8),慢性骨髓纤维化(CMIF)患者阳性率为50.0%(2/4)。JAK2V617F突变阳性患者血红蛋白和白细胞计数比突变阴性患者高,差异具有统计学意义(P<0.05)。临床表现发病的年龄偏大,脾脏肿大更显著,并且发生血栓性事件概率增加。结论 JAK2V617F基因突变有助于BCR/ABL融合基因阴性的MPD的诊断。JAK2V617F突变阳性的MPD患者与JAK2V617F突变阴性的MPD患者进行比较,存在特点为:发病时平均血红蛋白浓度和白细胞计数较高,发病年龄偏大,易发生血栓、栓塞并发症,脾脏肿大更显著。更多还原

【Abstract】 Objective To discuss the incidence rate of JAK2V617F gene mutation in myeloproliferative disorders (MPD) and its correlation to hematological changes and clinical manifestations, and analyze the significance of JAK2V617F mutation to the diagnosis and prognosis judgment of MPD. Methods Thirty MPD patients were tested for JAK2V617F gene mutation. Further analysis was conducted considering the patients′ clinical data, peripheral blood routine, incidence rate of adverse thrombotic events and spleen size under color Doppler ultrasound. Results The JAK2V617F gene mutation rate of MPD patients was 70%; The positive rate of patients with polycythemia vera (PV) was 77.8% (14/18); The positive rate of patients with essential thrombocythemia (ET) was 62.5% (5/8); The positive rate of patients with chronic myelofibrosis (CMIF) was 50.0% (2/4). The hemoglobin and white blood cell count of the patients with positive JAK2V617F mutation were higher than those of the patients with negative mutation, with statistically significant difference (P < 0.05). Clinical manifestation showed that older patients had more significant splenomegaly and higher probability of thrombotic events. Conclusion JAK2V617F gene mutation contributes to the diagnosis of MPD with negative BCR/ABL fusion gene. Compared with MPD patients with negative JAK2V617F mutation, the characteristics of MPD patients with positive JAK2V617F mutation are as follows: higher average hemoglobin concentration and white blood cell count during disease onset, higher disease onset age, inclination to thrombosis and embolic complications and more significant splenomegaly.更多还原