原发性血小板增多症骨髓病理及JAK2-V617F突变分析

目的:分析原发性血小板增多症（essential thrombocythemia，ET）患者的骨髓病理及JAK2-V617F突变特点。方法:回顾109例ET患者的临床资料，并与继发性血小板增多症(secondary thrombocythemia，ST)进行比较。结果:ET骨髓病理巨核细胞体积明显增大，核多分叶、多核易见，成簇、成片状分布，ST巨核细胞体积未见明显增大及异常分布。ET患者JAK2-V617F突变阳性率为 57.83%，ST患者JAK2-V617F突变均为阴性。JAK2-V617F突变阳性组WBC、Hb、骨髓纤维化、初诊血栓事件高于阴性组，差异有统计学意义（P<0.05)。JAK2-V617F突变阳性组年龄、Plt、骨髓粒系、红系百分比及巨核细胞计数与阴性组比较，无显著性差异（P>0.05）；JAK2-V617F突变阳性组无血栓生存率较阴性组低，差异有统计学意义（P<0.05）。结论:ET的骨髓病理特征明显，骨髓活检与JAK2-V617F基因检查相结合对ET诊断及治疗具有重要意义。

Analysis on marrow pathology and JAK2-V617F mutation of essential thrombocythemia

Objective:To analyze the bone marrow pathology of essential thrombocythemia (ET)and JAK2 -V617F mutation characteristics.Methods:To review the clinical data of 109 patients with ET,and compare with sec-ondary thrombocythemia (ST ).Results:ET marrow pathology indicated the megakaryocyte volume obviously in-creased,with multiple leaves and multiple nuclei,clustering and patchy distribution,while megakaryocyte volume of ST patients was not obviously was increased and abnormal distribution.JAK2-V617F mutation positive rate in ET pa-tients was 57.83%,JAK2-V617F mutation in ST patients were all negative.WBC,Hb,myelofibrosis,and thrombotic events of JAK2-V617F mutation positive group were higher than that of negative group,and the difference was statis-tically significant(P <0.05 ).The age,Plt,bone marrow granulocyte,erythrocyte percentage and megakaryocyte counts of JAK2 -V617F mutation positive group,had no significant difference,compared with negative group(P>0.05).The survival rate of JAK2-V617F mutation positive group was lower than that of the negative group,and the difference was statistically significant(P<0.05).Conclusion:ET patients'bone marrow pathology had character-istics significantly.Bone marrow biopsy combined with JAK2-V617F genetic testing is of great significance for ET di-agnosis and treatment.