JAK2基因突变阳性骨髓增殖性肿瘤患者临床特征的分析  

Clinical Characteristics of Patients with JAK2 Gene Mutation Myeloproliferative Neoplasms

作　　者：李芋锦 朱世荣 刘为易 明静 王子卿 张姗姗[1] 胡晓梅[1] LI Yu-Jin;ZHU Shi-Rong;LIU Wei-Yi;MING Jing;WAMG Zi-Qing;ZHANG Shan-Shan;HU Xiao-Mei(Department of Hematology,Xiyuan Hospital,China Academy of Chinese Medical Sciences,Beijing 100091,China;Beijing University of Chinese Medicine,Beijing 100029,China)

机构地区：[1]中国中医科学院西苑医院血液科,北京100091 [2]北京中医药大学,北京100029

出　　处：《中国实验血液学杂志》2021年第5期1533-1539,共7页Journal of Experimental Hematology

基　　金：中央级公益性科研院所基本科研业务费专项(ZZ10-016)。

摘　　要：目的:探讨骨髓增殖性肿瘤(MPN)患者JAK2基因突变阳性与临床指标的相关性。方法:对2017年9月至2020年1月于中国中医科学院西苑医院血液科就诊的122例MPN患者进行回顾性研究,分析JAK2基因突变与患者性别、年龄、外周血细胞、脾增大和血栓出血事件发生率等相关性。结果:122例MPN患者中包括真性红细胞增多症(PV) 36例(29.5%)、原发性血小板增多症(ET) 56例(45.9%)和原发性骨髓纤维化(MF) 30例(24.6%)。MPN患者JAK2基因突变率为64.6%(79/122),PV、ET和MF各组患者JAK2基因突变率分别为77.7%(28/36)、60.7%(34/56)和56.7%(17/30),PV组的JAK2基因突变率与ET组突变率相比有统计学意义(P<0.05);JAK2基因突变组血红蛋白(Hb)水平[(150.0±39.6) g/L]较野生型组[(129.4±38.9) g/L]明显升高(P<0.05);JAK2基因突变组白细胞数(WBC)[(9.5±4.7)×10^(9)/L]较野生型组[(8.4±46.9)×10^(9)/L]明显升高(P<0.05)。在PV组中,JAK2基因突变组血小板(PLT)数[(370.2±113.1)×10^(9)/L]较野生型组[(264.8±63.9)×10^(9)/L]明显升高(P <0.05)。MPN患者脾增大发生率为35.2%(43/122),MF组患者脾增大发生率是63.3%(19/30),且MF组中JAK2基因突变组脾增大发生率为82.4%(12/17),较野生型组的脾增大发生率(38.5%,5/13)显著升高(P<0.05)。结论:MPN患者JAK2基因突变率较高,PV患者JAK2基因突变率比ET和MF患者更高;MPN患者中JAK2基因的突变与血象指标有关;MF患者脾增大发生率最高,且脾增大与MF患者中JAK2基因突变的发生相关。Objective:To investigate the relationship between JAK2 gene mutation and clinical indicators in patients with myeloproliferative neoplasms(MPN).Methods:122 MPN patients in the Department of Hematology,Xiyuan Hospital,China Academy of Chinese Medical Sciences from September 2017 to January 2020 were retrospectively analyzed.The relationship between JAK2 gene mutation and sex,age,peripheral blood cell count,splenomegaly,and thrombosis and bleeding events were analyzed.Results:In 122 patients with MPN,the patients with polycythemia vera(PV)accounted for 36(29.5%),the patients with essential thrombocythemia(ET)accounted for 56(45.9%),the patients with myelofibrosis(MF)accounted for 30(24.6%).The JAK2 gene mutation rate in MPN patients was 64.6%(79/122),and the JAK2 gene mutation rate in PV,ET and MF groups were 77.7%(28/36),60.7%(34/56)and 56.7%(17/30),the JAK2 gene mutation rate of the patients in PV group was statistically significant as compared with those in the ET group(P<0.05).The hemoglobin(Hb)count of the patients in JAK2 gene mutation group was higher than those in wild-type group[(150.0±39.6)g/L vs(129.4±38.9)g/L,P<0.05];the white blood cell(WBC)count of the patients in JAK2 gene mutation group was higher than those in the wild type group[(9.5±4.7)×109/L vs(8.4±46.9)×109/L,P<0.05].As for the patients in PV group,the platelet count of the patients in JAK2 gene mutation group was higher than those in the wild type group[(370.2±113.1)×109/L vs(264.8±63.9)×109/L,P<0.05].The incidence of splenomegaly in MPN patients was 35.2%(43/122),and the incidence of splenomegaly in MF patients was63.3%(19/30),and the incidence of splenomegaly in the patients in JAK2 gene mutation group in MF group(82.4%,12/17)was significantly higher than those in the wild-type group(38.5%,5/13)(P<0.05).Conclusion:The mutation rate of JAK2 gene in MPN patients is higher,and the mutation rate of JAK2 gene in PV patients is higher than that in ET and MF patients;JAK2 gene mutations in MPN patients are related to hemogram index;the i

关 键 词：骨髓增殖性肿瘤 JAK2基因突变 临床特征 真性红细胞增多症 原发性血小板增多症 原发性骨髓纤维化 

分 类 号：R55I.3[医药卫生—血液循环系统疾病]