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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。
Objective: To analyze the bone marrow pathology and the mutation of JAK2-V617F in patients with essential thrombocythemia (ET). Methods: The clinical data of 109 patients with ET were reviewed and compared with secondary thrombocythemia (ST). Results: The volume of megakaryocytes in ET bone marrow was significantly increased. The nuclei were divided into many lobes and many nuclei were found in clusters. The distribution of megakaryocytes was not obvious and the distribution of ST megakaryocytes was not significantly increased. The positive rate of JAK2-V617F mutation in ET patients was 57.83%, and the mutation of JAK2-V617F in ST patients was negative. The JAK2-V617F mutation-positive group had higher WBC, Hb, myelofibrosis and newly diagnosed thrombosis than the negative group, the difference was statistically significant (P <0.05). The positive rate of thrombosis in JAK2-V617F mutation-positive group was significantly lower than that in the negative group (P> 0.05). There were no significant differences in the age, Plt, myeloid, erythroid percentage and megakaryocyte count of JAK2-V617F mutation positive group , The difference was statistically significant (P <0.05). Conclusion: The pathological features of bone marrow in ET are obvious. The combination of bone marrow biopsy and JAK2-V617F gene examination is of great significance for the diagnosis and treatment of ET.