目的 分析CCAAT/增强子结合蛋白α(CEBPA)基因突变急性髓系白血病(AML)患者临床特征及预后.方法 回顾分析208例初诊AML患者CEBPA基因突变发生率、临床特征、治疗效果及预后.结果 208患者中,CEBPA突变患者37例(17.8％),其中29例为双突变,8例为单突变.1 17例正常核型患者中CEBPA突变28例(23.9％).CEBPA双突变患者具有以下临床特征:初诊时年龄小,大部分(82.8％,24/29)患者为M1型与M2型,初诊时表现为外周血白细胞数高、血红蛋白水平高、血小板数低,白血病细胞高表达CD7、CD34及HLA-DR.CEBPA双突变患者总生存率优于无突变者(2年总生存率:100％比75.1％,P=0.045).结论 CEBPA双突变为AML预后良好标志之一.%Objective To explore the clinical characteristics and prognosis of acute myeloid leukemia (AML) patients with CCAAT/enhancer binding protein α (CEBPA) mutations.Methods 208 patients with de novo AML were retrospectively analyzed with regard to frequency of CEBPA mutations,clinical characteristics,therapeutic response and long-term outcome.Results CEBPA mutations were detected in 37 patients (17.8 ％),with 29 cases of double mutations and 8 cases of single mutation.In 117 cases of patients with normal karyotype,28 cases (23.9 ％) were detected with CEBPA mutations.As compared with no CEBPA mutation,the following characteristics were observed in patients with CEBPA double mutations.Presented with younger age at diagnosis,82.8 ％ (24/29) of the patients were M1 and M2.Presented with higher peripheral white blood cell count,higher hemoglob in and low platelet count.And increases of CD7,CD34 and HLA-DR expression.Compared with those without mutation,patients with biCEBPA mutations had better overall survival (OS) (2-years OS:100 ％ vs 75.1％,P =0.045).Conclusion BiCEBPA mutation is one of the favorable prognosis indicators.
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