CEBPA基因突变和表达异常在急性髓系白血病中的作用研究

摘要

CCAAT enhancer binding protein A ( CEBPA) and its product transcription factor CCAAT enhancer binding protein a (C/EBPa) play pivotal roles in early granulocyte development. C/EBPa induces the transition and keeps the balance of differentiation and proliferation of myeloid progenitors. The mutation and dysregulation of CEBPA at transcription, translation or post-translation level lead to differentiation block and over proliferation of immature hematopoietic cells, which are important mechanisms of acute myeloid leukemia ( AML). The mutation and dysregulation of CEBPA also provide clues for evaluating the outcome of AML patients and potential targets for differentiation-inducing therapies. This review focus on CEBPA mutation and AML, dysregulation of C/EBPa protein expression and AML, as well as C/EBPa protein and targeting therapy.%CCAAT增强子结合蛋白A(CEBPA)基因及其编码的转录因子CCAAT增强子结合蛋白α(C/EBPα)通过促进造血干/祖细胞向粒系分化并抑制细胞增殖,在造血系统早期分化过程中起重要作用.CEBPA基因的突变及其在转录、翻译及翻译后水平受到的异常调控可引起C/EBPα蛋白结构或表达异常,导致粒系分化成熟障碍、不成熟粒系前体细胞异常增殖,是急性髓性白血病(AML)的重要发病机制.CEBPA基因突变和表达异常调节对AML患者的预后有重要影响,并可作为诱导分化治疗的靶点.本文就CEBPA基因突变与AML、C/EBPα蛋白表达调控异常与AML及C/EBPα蛋白与靶向治疗进行综述.