Gene mutation spectrum and clinical characteristics analysis of 178 patients with essential thrombocytosis
10.3760/cma.j.issn.0253-2727.2019.10.008
- VernacularTitle: 178例原发性血小板增多症患者的基因突变谱及临床特征
- Author:
Huan DONG
1
;
Rongfeng FU
;
Mankai JU
;
Ting SUN
;
Xiaofan LIU
;
Feng XUE
;
Ying CHI
;
Renchi YANG
;
Lei ZHANG
Author Information
1. The State Key Laboratory of Experimental Hematology, Institute of Hematology and Hospital of Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College.Tianjin Key Laboratory of Gene Therapy for Blood diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
Essential thrombocytosis;
Gene mutation;
Clinical Study
- From:
Chinese Journal of Hematology
2019;40(10):837-842
- CountryChina
- Language:Chinese
-
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%CI 1.382-15.282) and cardiovascular risk factors (CVF) (P<0.001, OR=8.873, 95%CI 2.921-26.955) as risk factors for thrombotic events, CALR mutation (P=0.032, OR=0.126, 95%CI 0.019-0.838) 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 (χ2=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.
