Department of Haematology, 71044Xuanwu Hospital, Capital Medical University, Beijing, China.
J Int Med Res. 2020 Dec;48(12):300060520977729. doi: 10.1177/0300060520977729.
To analyse the frequency and characteristics of the Janus kinase 2 ( V617F mutation in patients with cerebral venous sinus thrombosis (CVST) with thrombocytosis.
The study enrolled CVST patients with thrombocytosis that had undergone V617F mutation detection to determine the frequency of the V617F mutation in this cohort. Correlations between patient demographics, whole blood cell counts, targeted sequencing results and V617F mutation status were determined.
A total of 23 patients were enrolled in the study: 11 (47.8%) with the V617F mutation and 12 (52.2%) without the V617F mutation. The mean platelet count was significantly higher in patients with the V617F mutation than in patients without the mutation (478.1 ± 107.4 × 10/l versus 374.4 ± 54.1 × 10/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 V617F mutation were detected in four CVST patients that underwent targeted sequencing.
The V617F mutation was frequently detected in CVST patients with thrombocytosis and it was associated with higher platelet counts.
分析伴有血小板增多症的脑静脉窦血栓形成（CVST）患者中 Janus 激酶 2（V617F 突变的频率和特征。
本研究纳入了经 V617F 突变检测的伴有血小板增多症的 CVST 患者，以确定该队列中 V617F 突变的频率。确定了患者人口统计学、全血细胞计数、靶向测序结果与 V617F 突变状态之间的相关性。
共纳入 23 例患者：11 例（47.8%）存在 V617F 突变，12 例（52.2%）不存在 V617F 突变。V617F 突变患者的平均血小板计数明显高于无突变患者（分别为 478.1±107.4×10/L 与 374.4±54.1×10/L）。两组间在年龄、性别、白细胞计数或血红蛋白水平方面无显著差异。除单核苷酸多态性外，在接受靶向测序的 4 例 CVST 患者中，未发现除 V617F 突变以外的与骨髓肿瘤相关的热点突变。
伴有血小板增多症的 CVST 患者中经常检测到 V617F 突变，且与较高的血小板计数相关。
