178例原发性血小板增多症患者的基因突变谱及临床特征 Translated title: Gene mutation spectrum and clinical characteristics analysis of 178 patients with essential thrombocytosis

Abstract

目的

分析原发性血小板增多症（ET）患者基因突变谱及临床特征。

方法

对2009年2月1日至2018年11月1日收治的178例初诊ET患者进行回顾性分析。

结果

全部178例患者中，男89例，女89例，中位初诊年龄为49.5（3~86）岁。JAK2V617F基因突变频率为16.45%（1.67%~43.90%），CALR基因突变频率为40.00%（10.00%~49.15%），MPL基因突变频率为25.10%（25.00%~40.00%）。与CALR基因突变的患者相比，JAK2V617F基因突变患者具有较高的发病年龄（ P=0.035）、初诊白细胞计数（ P=0.040）、初诊血红蛋白浓度（ P=0.001）和较低的初诊血小板计数（ P=0.002）。47例（27.01%）患者诊断ET前发生血栓事件，3例（1.72%）诊断ET后发生血栓事件。多因素分析结果显示，年龄>60岁（ P=0.013， OR=4.595，95% CI1.382~15.282）、心血管危险因素（ P<0.001， OR=8.873，95% CI2.921~26.955）为血栓事件的危险因素，CALR基因突变（ P=0.032， OR=0.126，95% CI0.019~0.838）为血栓事件的保护性因素。年龄>60岁（ P=0.042， OR=4.045，95% CI1.053~15.534）是影响ET患者总生存时间的危险因素。年龄≤60岁、年龄>60岁患者的OS时间分别为（115.231±1.899）、（83.291±4.991）个月（ χ ²=6.406， P=0.011）。

结论

心血管危险因素、年龄>60岁为ET患者血栓事件的危险因素，CALR基因突变为血栓事件的保护性因素。年龄>60岁是影响ET患者总生存的危险因素。

Translated abstract

Objective

To analyze the gene mutation spectrum, clinical features, and the factors of disease progression and prognosis in patients with essential thrombocytosis (ET).

Methods

A retrospective analysis was conducted on 178 newly diagnosed ET patients admitted from February 1st, 2009 to November 1st, 2018.

Results

Of the 178 patients, 89 were male and 89 female, and the median diagnosis age was 49.5 (3–86) years old. JAK2V617F, CALR and MPL mutations frequencies were 16.45% (1.67%–43.90%), 40.00% (10.00%–49.15%) and 25.10% (25.00%–40.00%), respectively. Compared with patients with CALR mutations, patients with JAK2V617F mutation had higher diagnosis age ( P=0.035), higher white blood cell count ( P=0.040), higher hemoglobin concentration ( P=0.001), and lower platelet count ( P=0.002), respectively. Of them, 47 patients (27.01%) developed thrombotic events before diagnosis, and 3 ones (1.72%) experienced thrombotic events after diagnosis. Multivariate analysis revealed age >60 years ( P=0.013, OR=4.595, 95% CI1.382–15.282) and cardiovascular risk factors (CVF) ( P<0.001, OR=8.873, 95% CI2.921–26.955) as risk factors for thrombotic events, CALR mutation ( P=0.032, OR=0.126, 95% CI0.019–0.838) as a protective factor for thrombotic events. Age >60 years ( P=0.042, OR=4.045, 95% CI 1.053–15.534) was found to be a risk factor for the overall survival (OS) of ET patients. OS of age ≤60 years and age>60 years were calculated by Kaplan-Meier analysis to be (115.231±1.899) months and (83.291±4.991) months ( χ ²=6.406, P=0.011), respectively.

Conclusion

Age >60 years and CVF were risk factors for thrombotic event. CALR mutation was a protective factor for thrombotic event. Age >60 years was a risk factor for OS in ET patients.