原发性血小板增多症患者中JAK2、CALR及三阴性驱动突变的临床特征比较  

Comparison of Clinical Characteristics of JAK2,CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia

作　　者：李雨蒙 杨二鹏 王子卿 王德好 牛继聪 李芋锦 明静 孙明谦[3] 陈卓 刘为易 吕妍[2] 胡晓梅[2] LI Yu-Meng;YANG Er-Peng;WANG Zi-Qing;WANG De-Hao;NIU Ji-Cong;LI Yu-Jin;MING Jing;SUN Ming-Qian;CHEN Zhuo;LIU Wei-Yi;LYU Yan;HU Xiao-Mei(Graduate School of China Academy of Chinese Medical Sciences,Beijing 100700,China;Department of Hematology,Beijing 100091,China;Institute of Basic Medicine,Xiyuan Hospital,China Academy of Chinese Medical Sciences,Beijing 100091,China)

机构地区：[1]中国中医科学院研究生院,北京100700 [2]中国中医科学院西苑医院血液科,北京100091 [3]中国中医科学院西苑医院基础医学研究所,北京100091

出　　处：《中国实验血液学杂志》2024年第1期197-201,共5页Journal of Experimental Hematology

基　　金：国家自然科学基金面上项目(82174360);中国中医科学院科技创新工程重大攻关项目(CI2021A01702,CI2021A01707,CI2021A01708);中国中医科学院西苑医院国家自然科学基金培育项目(XY20--10)。

摘　　要：目的:探讨原发性血小板增多症(ET)患者的突变基因与临床特征的关系。方法:对2018年10月至2022年3月69例ET患者的临床资料进行回顾性分析。将患者按突变的驱动基因类型分为JAK2组、CALR组与三阴性组,对3组患者的性别、年龄、心血管危险因素、血栓、脾肿大、血常规、凝血状态进行分析。结果:69例ET患者中,46例伴随JAK2基因突变,14例伴随CALR基因突变,8例为三阴性,1例伴随MPL基因突变。3组患者的年龄、性别无显著差异(P>0.05)。JAK2组血栓率最高,为26.09%(12/46),三阴性组为12.5%(1/8),CALR组无血栓事件。JAK2组伴随脾肿大发生率最高,为34.78%(16/46),而三阴性组无脾肿大发生。JAK2组的白细胞数为(9.00±4.86)×10^(9)/L,显著高于CALR组的(6.03±2.32)×10^(9)/L(P<0.05)。JAK2组的血红蛋白含量为(148.43±18.79)g/L,显著高于三阴性组的(131.00±15.17)g/L(P<0.05)。JAK2组的红细胞压积为(0.44±0.06)%,亦显著高于三阴性组的(0.39±0.05)%(P<0.05)。JAK2组血小板数为(584.17±175.77)×10^(9)/L,显著低于CALR组的(703.07±225.60)×10^(9)/L(P<0.05)。JAK2组和三阴性组纤维蛋白原含量分别为(2.64±0.69)g/L和(3.05±0.77)g/L,均显著高于CALR组的(2.24±0.47)g/L(P<0.05,P<0.01)。三阴性组活化部分凝血活酶时间为(28.61±1.99)s,较CALR组的(31.45±3.35)s显著降低(P<0.05)。结论:不同驱动基因突变ET患者的血细胞计数与凝血状态存在差异。与CALR组相比,JAK2组血栓率、白细胞数和纤维蛋白原含量均显著升高,而血小板数显著降低;与三阴性组相比,JAK2组脾大发生率和红细胞压积显著升高;与CALR组相比,三阴性组的纤维蛋白原含量显著升高、活化部分凝血活酶时间显著降低。Objective:To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia(ET).Methods:The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed.According to driver mutation type,patients were divided into JAK2 group,CALR group and triple-negative group.The sex,age,cardiovascular risk factors,thrombosis,splenomegaly,routine blood test and coagulation status of patients in three groups were analyzed.Results:Among 69 ET patients,46 cases were associated with JAK2 mutation,14 cases with CALR mutation,8 cases with triple-negative mutation,and one with MPL gene mutation.There were no significant differences in age and sex among the three groups(P>0.05).The highest thrombotic rate was 26.09%(12/46)in JAK2 group,then 12.5%(1/8)in triple-negative group,while no thrombotic events occurred in CALR group.The incidence of splenomegaly was the highest in JAK2 group(34.78%),while no splenomegaly occurred in triple-negative group.The white blood cell(WBC)count in JAK2 group was(9.00±4.86)×10^(9)/L,which was significantly higher than(6.03±2.32)×10^(9)/L in CALR group(P<0.05).The hemoglobin(Hb)and hematocrit(HCT)in JAK2 group were(148.42±18.79)g/L and(0.44±0.06)%,respectively,which were both significantly higher than(131.00±15.17)g/L and(0.39±0.05)%in triple-negative group(P<0.05).The platelet(PLT)in JAK2 group was(584.17±175.77)×10^(9)/L,which was significantly lower than(703.07±225.60)×10^(9)/L in CALR group(P<0.05).The fibrinogen(Fg)in JAK2 and triple-negative group were(2.64±0.69)g/L and(3.05±0.77)g/L,respectively,which were both significantly higher than(2.24±0.47)g/L in CALR group(P<0.05,P<0.01).The activated partial thromboplastin time(APTT)in triplenegative group was(28.61±1.99)s,which was significantly decreased compared with(31.45±3.35)s in CALR group(P<0.05).Conclusions:There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations.Among ET patients

关 键 词：原发性血小板增多症 二代基因测序 驱动突变 凝血 

分 类 号：R558.3[医药卫生—血液循环系统疾病]