JAK2^(V617F)突变真性红细胞增多症及真性红细胞增多症后骨髓纤维化临床特点

Clinical characteristics of JAK2^(V617F) mutation with polycythemia vera and post-polycythemia vera myelofibrosis

目的探讨JAK2^(V617F)突变真性红细胞增多症(PV)及真性红细胞增多症后骨髓纤维化(post-PV MF)患者的临床特点及骨髓活检特点。方法收集并分析2017年1月至2020年9月郑州大学第一附属医院血液内科收治的92例PV患者的临床特点,既往病史、外周血指标、基因学检查、骨髓穿刺等资料。结果与JAK2^(V617F)阴性组比较,JAK2^(V617F)阳性组患者血小板(PLT)、中性粒细胞绝对值计数和碱性磷酸酶更高(Z=2.596,P=0.009;Z=2.109,P=0.035;Z=2.167,P=0.030),且年龄更大(χ^(2)=4.434,P=0.035),预后更差(χ^(2)=11.471,P=0.003)。预后再发血栓事件中,高白细胞、高龄及既往冠心病史均为危险因素(OR=1.242,P<0.001;OR=1.075,P=0.037;OR=5.460,P=0.018)。PLT、血小板分布宽度和甘油三酯能够用来预测post-PV MF(界限值分别为396×109/L、18.25×109/L及1.64 mmol/L),骨髓活检组织中更多的造血组织、巨核细胞、更少的脂肪组织及更多的网织纤维(t=1.991,P=0.046;t=2.923,P=0.003;t=2.075,P=0.038;χ^(2)=37.594,P<0.001)可能有助于发现早期的post-PV MF。结论JAK2^(V617F)是否突变产生的临床特点上的差异可能有助于指导我们对不同患者的治疗,并且通过早期预防危险因素的发生改善预后,同时部分临床特点可能提示我们早期发现post-PV MF的发生,因此临床上应重视PV患者的详细检查。

Objective To investigate the clinical characteristics and bone marrow biopsy features of JAK2^(V617F) mutation patients with polycythemia vera(PV)and post-polycythemia vera myelofibrosis(post-PV MF).Methods The clinical characteristics of 92 patients with PV in the Department of Hematology of the First Affiliated Hospital of Zhengzhou University from Jan 2017 to Sep 2020 were collected and analyzed,the clinical characteristics of these patients included the history of hypertension,the counts of peripheral blood cells,genetic examination and bone marrow aspiration.Results Compared with the JAK2-negative group,patients with JAK2-positive had higher platelet(PLT)counts,absolute neutrophil count,alkaline phosphatase(Z=2.596,P=0.009;Z=2.109,P=0.035;Z=2.167,P=0.030),older age and worse prognosis(χ^(2)=4.434,P=0.035;χ^(2)=11.471,P=0.003).In the prognosis of thrombus events,high leucocyte,old age and previous history of coronary heart disease were all risk factors(OR=1.242,P<0.001;OR=1.075,P=0.037;OR=5.460,P=0.018).Patients with post-PV MF had higher platelet、platelet distribution width and triglyceride may predict the occurrence of post-PV MF(limit values of 396×109/L、18.25×109/L and 1.64 mmol/L),and more hematopoietic tissue,megakaryocytes,fewer adipose tissues and more fiber(t=1.991,P=0.046;t=2.923,P=0.003;t=2.075,P=0.038;χ^(2)=37.594,P<0.001)in biopsy tissue in bone marrow biopsy tissue may help to detect early post-PV MF.Conclusion Differences in the clinical features of JAK2^(V617F) mutations may help guide our treatment of different patients and improve prognosis by early prevention of risk factors,while some clinical features may suggest that we detect the occurrence of post-PV MF early,so we should pay attention to the clinical examination of patients with PV.