真性红细胞增多症和原发性血小板增多症患者中JAK2V617F突变负荷与临床特征相关性  

Correlation of JAK2V617F Mutation Burden with Clinical Features in Patients with Polycythemia Vera and Essential Thrombocythemia

作　　者：刘红星[1] 童春容[1] 蔡鹏[1] 滕文[1] 王赫[1] 张英[2] 朱平[2] 

机构地区：[1]北京市道培医院特检中心,北京100049 [2]北京大学第一医院血液研究室,北京100034

出　　处：《中国实验血液学杂志》2009年第3期742-745,共4页Journal of Experimental Hematology

基　　金：国家科技部国际科技合作重大项目(编号2006DFB31430);国家自然科学基金(编号30470939)

摘　　要：为分析真性红细胞增多症(polycythemia vera,PV)和原发性血小板增多症(essential thrombocythemia,ET)患者JAK2V617F突变负荷和患者临床特征的相关性,利用荧光实时定量PCR方法检测90例初诊骨髓增殖性疾病(myeloproliferative disorder,MPD)患者(包括47例PV和43例ET)外周血标本中JAK2V617F突变基因负荷,统计分析JAK2V617F负荷和患者外周血中血红蛋白、红细胞压积、白细胞计数和血小板计数的相关性。结果表明:突变阳性的ET患者中JAK2V617F负荷(0.209±0.192)较PV患者中(0.441±0.270)低(p=0.028)。在PV和ET患者中JAK2V617F负荷和患者外周血中血红蛋白(PV∶R=0.518,p<0.001;ET∶R=0.528,p=0.005)、红细胞压积(PV∶R=0.510,p<0.001;ET∶R=0.524,p=0.005)和白细胞计数(PV∶R=0.584,p=<0.001;ET∶R=0.471,p=0.013)都呈正相关。在PV患者中,JAK2V617F突变负荷和血小板计数呈负相关(R=-0.354,p=0.020);但在ET患者中,JAK2V617F负荷和血小板计数无明显相关性(R=0.233,p=0.242)。结论:在PV患者和ET患者中,JAK2V617F突变负荷和患者外周血中血红蛋白、红细胞压积和白细胞计数都呈正相关。在PV患者中,JAK2V617F负荷和血小板计数呈负相关,而在ET患者中JAK2V617F负荷和血小板计数无明显相关性。This study was aimed to analyze the correlation of JAK2V617F mutation burden with clinical features in patients with polycythemia vera （PV） and essential thrombocythemia （ET）, The JAK2V617F mutation ratios in 47 PV samples and 43 ET samples were detected by real-time PCR. The correlation of mutation allele ratio in PV and ET sampies with clinical features （hemoglobin, hematocrit, white blood cell count and platelet count） was analyzed. The results showed that the JAK2V617F mutation burden was higher in PV （0.441 ± 0.270） than that in ET （0.209 ± 0. 192 ）. The JAK2V617F mutation burden was positively correlated with levels of hemoglobin （ PV： R = 0.518, p 〈0.001 ; ET： R = 0. 528 ,p =0. 005）, hematocrit （PV： R =0.510, p 〈0. 001 ; ET： R =0. 524 ,p =0. 005） and leukocyte （PV： R =0. 584, p = 〈0. 001 ; ET： R =0. 471 ,p =0.013） in PV and ET samples. The higher JAK2V617F mutation burden was negatively correlated with levels of platelet count in PV samples（ R = -0.354, p = 0.020）, but there was no correlation between the JAK2V617F mutation burden and platelet count in ET samples （R = 0. 233, p = 0.242）. It is concluded that the higher JAK2V617F mutation burden is related with higher hemoglobin, hematocrit and leukocyte count in both PV and ET samples. The higher JAK2V617F mutation burden is correlated with lower platelet count in PV samples, but there is no correlation between JAK2V617F mutation burden and platelet count in ET samples.

关 键 词：JAK2V617F突变 荧光定量PCR 真性红细胞增多症 原发性血小板增多症 

分 类 号：R558.3[医药卫生—血液循环系统疾病] R555.1[医药卫生—内科学]