摘要
目的通过研究原发性血小板增多症(ET)患者中CALR及JAK2两种不同基因型突变的临床资料,比较两种不同基因型突变的ET患者的基本资料(性别、年龄)、病史(出血史、血栓史)、体征(脾大、肝大)及外周血液指标(白细胞、血小板、血红蛋白、D-二聚体)间的异同,结合相关文献探讨上述临床参数与基因型突变的相关联系。方法收集2015年9月1日至2017年9月1日期间就诊我院门诊及住院部的首诊ET病人,共统计病例数37例。根据患者基因检测结果分列为JAK2 V617 F基因突变组及CALR基因突变组,并分别采集患者的基本资料、病史、体征及外周血液指标,利用统计学对比不同基因型突变组之间上述基本信息、背景资料及外周血象部分指标(白细胞、血小板、血红蛋白、D二聚体)的参数资料,并结合国内外文献,比较两种基因型突变间的临床特征。结果①在37例原发性血小板增多症患者中共检出24例JAK2 V617 F基因突变阳性,占病例总体的64.9%;共检出13例CALR基因突变阳性,占总病例数的35.1%;未检测至其它基因突变阳性。②ET患者中JAK2 V617 F基因突变组的血栓史事件发生率高于CALR基因突变组,且具有统计学意义(P=0.013<0.05)。③ET患者中JAK2 V617 F基因突变组的外周血白细胞计数高于CALR基因突变组,且具有统计学意义(P=0.009<0.05)。④ET患者中CALR与JAK2 V617 F基因突变组两组间的性别分布、发病年龄、出血史、肝脾增大、外周血象中的血小板、血红蛋白及D-二聚体的参数资料在数学上未发现具有统计学意义的差异(P>0.05)。结论①本课题中的ET患者中JAK2 V617 F基因突变阳性与CALR基因突变阳性的比例较国内外研究基本一致。②相较于CALR基因突变阳性的ET患者,JAK2 V617 F基因突变阳性的ET患者具有更高的白细胞计数及血栓事件发生率。③携带JAK2 V617 F基因突变的ET患者与携带CALR基因突变的ET患者相比,具有更差的生存预后及更高的血栓事件风险。
Objective By studying the gene mutations of JAK2 and CALR in patients with essential thrombocytosis(ET),comparing the data which included Basic information(sex,age),Medical history(The history of bleeding,the history of thrombosis),Physical signs(Splenomegaly,Hepatomegaly),Peripheral blood routine(white blood cell,platelet,hemoglobin,D-dimer),to investigate correlation between gene mutation of essential thrombocytosis and clinical information above.Methods Screening of ET patients which first visit outpatient and inpatient departments of our hospital from September 1 st 2015 to September 1 st 2017.A total of 37 patients were divided into JAK2 V617 F mutation group and CALR mutation group.Basic information,medical history,physical signs,peripheral blood routine were collected.To compare the above basic information,background data and some indexes of peripheral blood among different gene mutation groups,analysing the clinical features between different gene mutations.Results 1.A total of 24 cases of JAK2 V617 F gene mutation positive were detected in 37 cases of essential thrombocytosis,the positive expression rate is 64.9%;13 cases of CALR gene mutation positive were detected in 37 cases of essential thrombocytosis,the positive expression rate is 35.1%;no other gene mutation was detected.2.The incidence of thrombotic events in JAK2 V617 F mutation group was higher than in CALR mutation group,and statistical significance has be verified(P=0.013<0.05).3.The white blood cell count in JAK2 V617 F mutation group was higher than that in CALR mutation group,and statistical significance has be verified(P=0.009<0.05).4.The data which included sex,age,history of bleeding,splenomegaly,hepatomegaly,platelet,hemoglobin and D-dimer were not statistically different between JAK2 V617 F and CALR mutation group(P>0.05).Conclusion 1.In this study,the ratio of JAK2 V617 F mutation and CALR mutation in ET patients is approximately the same as that in domestic and foreign research.2.As for the white blood cell count and incidence of thrombotic events,the ET patients which with JAK2 V617 F gene mutation present higher value,compare to which one with CALR gene mutation.3.ET patients with JAK2 V617 F mutation had worse survival prognosis and higher thrombotic risk than ET patients with CALR mutation.
作者
潘一洲
李纯团
王少雄
朱雄鹏
PAN Yi-zhou;LI Chun-tuan;WANG shao-xiong;ZHU Xiong-peng(Department of Haematology,First Hospital of Quanzhou Affiliated to Fujian Medical University,Quanzhou,362000,China)
出处
《血栓与止血学》
2020年第4期544-548,共5页
Chinese Journal of Thrombosis and Hemostasis
