Objective: To investigate the prognostic value of CEBPA gene mutations in patients with newly diagnosed acute myeloid leukemia (AML) . Methods: A retrospective cohort analysis was conducted on the clinical data from 237 CEBPA-mutated AML patients who received intensive chemotherapy induction at the First Affiliated Hospital of Soochow University between January 2016 and December 2024. Clinical characteristics, treatment responses, and prognosis were compared among different mutation subgroups. Results: Among 237 patients, 182 (76.8%) harbored bZIP domain in-frame insertion/deletion mutations (bZIP(InDel)), 13 (5.5%) had bZIP domain missense mutations (bZIP(ms)), and 42 (17.7%) carried other mutation types (Other(mut)). Compared with the latter two groups, patients in the bZIP(InDel) group had a younger age at onset (P<0.001), a higher GATA2 mutation rate (P<0.001), and lower mutation rates of NPM1 and DNMT3A (both P<0.05). After two courses of induction therapy, the bZIP(InDel) group achieved significantly higher complete remission (CR) /CR with incomplete hematologic recovery (CRi) rates and measurable residual disease (MRD) -negative rates than the bZIP(ms) and Other(mut) groups (CR/CRi rates: 99.4% vs 75.0% vs 86.8%, P<0.001; MRD-negative rates: 88.6% vs 77.8% vs 66.7%, P=0.008). With a median follow-up of 41 months, the 3-year overall survival (OS) and relapse-free survival (RFS) rates in the bZIP(InDel) group were 90.7% and 72.1%, respectively. Multivariate analysis revealed that CEBPA bZIP(InDel) was an independent favorable prognostic factor for both OS (HR=0.16, 95%CI: 0.06-0.40, P<0.001) and RFS (HR=0.31, 95%CI: 0.17-0.57, P<0.001). Within the bZIP(InDel) group, patients achieving CR/CRi after one course of induction had a superior 3-year OS rate compared with those achieving CR/CRi after two courses (88.3% vs 48.9%, P=0.050). Although allogeneic hematopoietic stem cell transplantation performed during the first CR (CR1) significantly improved the 3-year RFS rate (89.7% vs 57.6%, P<0.001), this benefit did not translate into an OS advantage (P=0.376). Additionally, concurrent KIT mutations were associated with a lower 3-year OS rate (65.6% vs 91.7%, P=0.042), and concurrent CSF3R mutations were associated with a lower 3-year RFS rate (42.9% vs 75.1%, P<0.001) . Conclusion: CEBPA bZIP(InDel) confer a distinct prognostic value. Patients in this subgroup derive substantial benefit from chemotherapy; however, the presence of concurrent KIT or CSF3R mutations is frequently associated with unfavorable outcomes. 目的： 探讨CEBPA基因突变在初诊急性髓系白血病（AML）患者中的预后价值。 方法： 本回顾性队列研究分析2016年1月至2024年12月苏州大学附属第一医院收治的237例接受强化诱导化疗的CEBPA突变阳性AML患者的临床资料，对比不同突变亚组的临床特征、治疗反应及预后。 结果： 237例患者中，bZIP结构域插入缺失突变（bZIP(InDel)）组182例（76.8%），bZIP结构域错义突变（bZIP(ms)）组13例（5.5%），其他类型突变（Other(mut)）组42例（17.7%）。与后两组相比，bZIP(InDel)组患者发病年龄更低（P<0.001），GATA2突变率更高（P<0.001），NPM1与DNMT3A突变率更低（P值均<0.05）。2个疗程诱导治疗后，bZIP(InDel)组完全缓解（CR）/CR伴血细胞不完全恢复（CRi）率及可检测残留病（MRD）阴性率均显著高于bZIP(ms)组和Other(mut)组（CR/CRi率：99.4%对75.0%对86.8%，P<0.001；MRD阴性率：88.6%对77.8%对66.7%，P=0.008）。中位随访41个月，bZIP(InDel)组3年总生存（OS）率及无复发生存（RFS）率分别为90.7%及72.1%。多因素分析显示，CEBPA bZIP(InDel)是OS（HR=0.16，95%CI：0.06~0.40，P<0.001）与RFS（HR=0.31，95%CI：0.17~0.57，P<0.001）的独立良好预后因素。bZIP(InDel)组中，1个疗程达CR/CRi者的3年OS率优于2个疗程达CR/CRi者（88.3%对48.9%，P=0.050）；首次CR（CR1）期行异基因造血干细胞移植虽可显著改善3年RFS率（89.7%对57.6%，P<0.001），但未能转化为OS获益（P=0.376）。此外，合并KIT突变与较低的3年OS率相关（65.6%对91.7%，P=0.042），合并CSF3R突变与较低的3年RFS率相关（42.9%对75.1%，P<0.001）。 结论： CEBPA bZIP(InDel)具有独特的预后价值，该亚组化疗获益显著，但伴随KIT或CSF3R突变者常预后不佳。.
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