178例原发性血小板增多症患者的基因突变谱及临床特征

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.