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CEBPA bZIP框内突变在急性髓系白血病中的研究进展

Research progress on CEBPA bZIP in-frame mutations in acute myeloid leukemia

来源期刊: 广州医药 | 139-150 发布时间:2025-03-10 收稿时间:2025/11/13 18:54:52 阅读量:22
作者:
关键词:
急性髓系白血病CCAAT增强子结合蛋白AbZIP框内突变
acute myeloid leukemiaCCAAT enhancer-binding protein AbZIP in-frame mutations
DOI:
10.20223/j.cnki.1000-8535.2025.02.001
收稿时间:
2024-08-20 
修订日期:
 
接收日期:
 
引用总数:
1  
CCAAT增强子结合蛋白A(CEBPA)是调节血液发育过程中髓系分化和造血干祖细胞活性的关键转录因子之一。CEBPA基因突变常见于急性髓系白血病(AML)中,最近研究表明CEBPA bZIP框内单位点和经典双等位基因突变AML患者均具有类似的临床特征,已被单独划分为AML亚群。CEBPA bZIP框内突变而非传统的双等位CEBPA基因突变成为AML良好预后的分子指标,表明其在AML疾病进展和治疗预后中的重要性和特殊性。本文将从CEBPA蛋白在血液系统中的功能、CEBPA bZIP框内突变AML的临床特征与分子作用机制、以及伴CEBPA突变AML的治疗现状等方面进行综述,为进一步研究CEBPA bZIP框内突变在AML中的致病性和精准治疗新药物开发提供参考。
CCAAT enhancer-binding protein A(CEBPA)is one of the key transcription factors regulating myeloid differentiation and hematopoietic stem/progenitor cell maintenance during hematopoiesis.CEBPA gene mutations are commonly found in acute myeloid leukemia(AML).Recent studies have demonstrated that AML patients haboring single CEBPA bZIP in-frame mutations or classical bi-allelic CEBPA mutations show similar clinical features and it has been individually classified as AML subgroup.Additionally,it is CEBPA bZIP in-frame mutations rather than the traditional biallelic CEBPA mutations that have emerged as a molecular indicator of favorable prognosis for clinical AML management,suggesting its importance and specificity in AML disease progression and therapeutic prognosis.Here,we reviewed serval aspects including the hematopoietic function of CEBPA protein,the clinical features and molecular mechanisms of AML with CEBPA bZIP in-frame mutations,and the current status of the treatment of AML with CEBPA mutations,which will provide a reference for further study of the pathogenicity of CEBPA bZIP in-frame mutations in AML and the development of new drugs for precision therapy.
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1、施毓.基于第7天外周血白血病细胞残留对初诊急性髓系白血病治疗疗效的相关性分析[D].吉林大学,2025.DOI:10.27162/d.cnki.gjlin.2025.004265. 施毓.基于第7天外周血白血病细胞残留对初诊急性髓系白血病治疗疗效的相关性分析[D].吉林大学,2025.DOI:10.27162/d.cnki.gjlin.2025.004265.
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