Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET)
机构：[1]Department of Hematology, The First Affiliated Hospital of Soochow University, No.188.Shizi Street, Suzhou, 215006, P.R. China.[2]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, 215006, P.R. China.[3]Department of Hematology, The First People's Hospital of Yunnan Province, No.154.Jinbi Road, Kunming, 650100, P.R China.内科片血液内科云南省第一人民医院
Most patients with polycythemia vera (PV) and half of essential thrombocythemia (ET) possess an activating JAK2V617F mutation. The objective of this study was to better define the effect of JAK2V617F mutant allele burden on clinical phenotypes in Chinese patients, especially thrombosis. By real-time polymerase chain reaction (RT-PCR), the JAK2V617F mutation burden was detected in 170 JAK2V617F-positive patients, including 54 PV and 116 ET. The results showed that JAK2V617F allele burden was higher in PV than in ET (P<0.001). Higher percentage of patients had JAK2V617F allele burden over 20% in PV than in ET (68.5% VS 26.7%) (P<0.001). In PV patients, higher JAK2V617F allele burden was observed in female (P<0.05) and leukocytosis patients (WBC above 10x109/L) (P<0.001). Meanwhile, ET patients showed increased JAK2V617F allele burden in the group with higher hemoglobin (HGB above 150g/L) (P<0.05), leukocytosis (WBC above 10x109/L) (P<0.001), splenomegaly (P<0.05) and thrombosis (P<0.05). In conclusion, the JAK2V617F mutation allele burden is higher in Chinese patients with PV than ET. In PV patients, JAK2V617F mutation burden had influence on WBC counts. And the clinical characteristics of ET patients, such as WBC counts, hemoglobin level, splenomegaly and thrombosis, were influenced by JAK2V617F mutation burden. Male, high hemoglobin (HGB above 150g/L), and increased JAK2V617F mutation burden (JAK2V617F allele burden >= 16.5%) were risks of thrombosis (P<0.05) for ET patients by Logistic Regression.
基金：
This work was supported by grants from the
Jiangsu Province of China (BRA2011218 and
RC2011105), National Natural Science Foundation of China (Grant No.81270591) and Priority Academic
Program Development of the Jiangsu Higher Education
Institutions (PAPD).
第一作者机构：[1]Department of Hematology, The First Affiliated Hospital of Soochow University, No.188.Shizi Street, Suzhou, 215006, P.R. China.[2]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, 215006, P.R. China.[3]Department of Hematology, The First People's Hospital of Yunnan Province, No.154.Jinbi Road, Kunming, 650100, P.R China.
共同第一作者：
通讯作者：
通讯机构：[1]Department of Hematology, The First Affiliated Hospital of Soochow University, No.188.Shizi Street, Suzhou, 215006, P.R. China.[2]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, 215006, P.R. China.[*1]Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, No.188 Shizi Street, Suzhou 215006, P.R. China.
推荐引用方式(GB/T 7714)：
Zhao Shixiang,Zhang Xiang,Xu Yang,et al.Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET)[J].INTERNATIONAL JOURNAL OF MEDICAL SCIENCES.2016,13(1):85-91.doi:10.7150/ijms.10539.
APA：
Zhao, Shixiang,Zhang, Xiang,Xu, Yang,Feng, Yufeng,Sheng, Wenhong...&Han, Yue.(2016).Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET).INTERNATIONAL JOURNAL OF MEDICAL SCIENCES,13,(1)
MLA：
Zhao, Shixiang,et al."Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET)".INTERNATIONAL JOURNAL OF MEDICAL SCIENCES 13..1(2016):85-91
