摘要目的:探讨携带CEBPA基因突变的急性髓系白血病（AML）患者的突变类型、临床特点和突变对生存结局的影响。方法:回顾性分析2016年4月至2022年11月期间北京协和医院确诊的57例伴有CEBPA基因突变的AML患者的人口学信息、临床表现、实验室检查结果、治疗以及生存数据。结果:57例CEBPA基因突变患者占同期所有353例AML患者的16.1%，其中bZIP区域框内突变（CEBPA-bZIPinf）28例，其余CEBPA基因突变（CEBPA-other）29例。与CEBPA-other患者相比，CEBPA-bZIPinf患者更年轻（54岁对64岁， P＝0.010），原发性AML更常见（ P＝0.001），骨髓原始细胞比例更高（68.0%对36.3%， P＝0.001）。CEBPA-bZIPinf及CEBPA-other患者分别有24例和19例接受化疗，CEBPA-bZIPinf患者的1个疗程完全缓解率显著高于CEBPA-other（87.5%对47.4%， P＝0.010）及CEBPA野生型（87.5%对50.3%， P＝0.002）患者。中位随访11个月，CEBPA-bZIPinf患者的中位总生存期明显长于CEBPA野生型患者（未达到对22.1个月， P＝0.012）。 结论:CEBPA-bZIPinf突变的AML患者具有独特的临床特征，对化疗的反应更好，预后更佳。

abstractsObjective:To demonstrate the type of CEBPA gene mutations among patients with acute myeloid leukemia (AML), clinical characteristics, and prognostic effect on patient outcomes.Methods:Demographic data, clinical features, laboratory characteristics, and data about treatment and follow-up of 57 patients with CEBPA mutated AML diagnosed at Peking Union Medical College Hospital between April 2016 and November 2022 were collected and analyzed.Results:In total, 57 patients with CEBPA mutation accounted for 16.1% of all the 353 patients with AML, among which 28 patients had CEBPA-bZIPinf and 29 had CEBPA-other. Compared with the CEBPA-other group, the CEBPA-bZIPinf group was younger (54 vs 64 years, P=0.010), de novo AML was more common ( P=0.001), and the level of bone marrow blast was higher (68.0% vs 36.3%, P=0.001). Moreover, 24 patients from the CEBPA-bZIPinf group and 19 from the CEBPA-other group received chemotherapy. The one-course complete remission (CR) rate of the CEBPA-bZIPinf group was significantly higher than that of the CEBPA-other (87.5% vs 47.4%, P=0.010) and CEBPA-wt (87.5% vs 50.3%, P=0.002) groups. After a median follow-up of 11 months, the median OS of the CEBPA-bZIPinf group was significantly longer than that of the CEBPA-wt group (not reached vs 22.1 months, P=0.012) . Conclusion:CEBPA-bZIPinf mutated AML is a unique clinical entity, with a younger age of diagnosis, better response to chemotherapy, and better prognosis.