Objective To analyse the frequency and characteristics of the Janus kinase 2 (JAK2) V617F mutation in patients with cerebral venous sinus thrombosis (CVST) with thrombocytosis. Methods The study enrolled CVST patients with thrombocytosis that had undergone JAK2 V617F mutation detection to determine the frequency of the JAK2 V617F mutation in this cohort. Correlations between patient demographics, whole blood cell counts, targeted sequencing results and JAK2 V617F mutation status were determined. Results A total of 23 patients were enrolled in the study: 11 (47.8%) with the JAK2 V617F mutation and 12 (52.2%) without the JAK2 V617F mutation. The mean platelet count was significantly higher in patients with the JAK2 V617F mutation than in patients without the mutation (478.1 +/- 107.4 x 10(9)/l versus 374.4 +/- 54.1 x 10(9)/l, respectively). There were no significant differences in age, sex, white blood cell count or haemoglobin level between the two groups. Other than single nucleotide polymorphisms, no hot-spot mutations associated with myeloid tumours other than the JAK2 V617F mutation were detected in four CVST patients that underwent targeted sequencing. Conclusion The JAK2 V617F mutation was frequently detected in CVST patients with thrombocytosis and it was associated with higher platelet counts.
基金：
Xuanwu Hospital Foundation; Capital Medical University [XWJL-2019023]
基金编号：XWJL-2019023
语种：
外文
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2019]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
最新[2023]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
JCR分区：
出版当年[2018]版：
Q4PHARMACOLOGY & PHARMACYQ4MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版：
Q4MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
第一作者机构：[1]Department of Haematology, Xuanwu Hospital, Capital Medical University, Beijing, China[*1]Department of Haematology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Xicheng District, Beijing 100053, China
通讯作者：
通讯机构：[*1]Department of Haematology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Xicheng District, Beijing 100053, China
推荐引用方式(GB/T 7714)：
Ma Qiang.Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis[J].JOURNAL OF INTERNATIONAL MEDICAL RESEARCH.2020,48(12):doi:10.1177/0300060520977729.
APA：
Ma, Qiang.(2020).Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.JOURNAL OF INTERNATIONAL MEDICAL RESEARCH,48,(12)
MLA：
Ma, Qiang."Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis".JOURNAL OF INTERNATIONAL MEDICAL RESEARCH 48..12(2020)
