急性髓系白血病中CEBPA基因突变的类型及其对预后的影响  

Type of CEBPA mutations in acute myeloid leukemia and their effect on prognosis

作　　者：毛玥莹[1] 蔡昊[1] 曹欣欣[1] 冯俊[1] 张路[1] 周道斌[1] 李剑[1] Mao Yueying;Cai Hao;Cao Xinxin;Feng Jun;Zhang Lu;Zhou Daobin;Li Jian(Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院、北京协和医学院北京协和医院血液内科,北京100730

出　　处：《中华血液学杂志》2024年第6期556-560,共5页Chinese Journal of Hematology

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。Objective 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.

关 键 词：白血病 髓系 急性 CEBPA基因突变 临床特点 预后 

分 类 号：R733.71[医药卫生—肿瘤]