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核心结合因子急性髓系白血病:CBFB、RUNX和NPM1突变异质性研究进展(综述)

Core binding factor acute myeloid leukemia: Advances in the heterogeneity of , , and mutations (Review).

作者信息

Quan Xi, Deng Jianchuan

机构信息

Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing 400010, P.R. China.

出版信息

Mol Clin Oncol. 2020 Aug;13(2):95-100. doi: 10.3892/mco.2020.2052. Epub 2020 May 25.

Abstract

Core binding factor (CBF) is a heterodimer protein complex involved in the transcriptional regulation of normal hematopoietic process. In addition, CBF molecular aberrations represent approximately 20% of all adult Acute Myeloid Leukemia (AML) patients. Treated with standard therapy, adult CBF AML has higher complete remission (CR) rate, longer CR duration, and better prognosis than that of AML patients with normal karyotype or other chromosomal aberrations. Although the prognosis of CBF AML is better than other subtypes of adult AML, it is still a group of heterogeneous diseases, and the prognosis is often different. Recurrence and relapse-related death are the main challenges to be faced following treatment. Mounting research shows the gene heterogeneity of CBF AML. Therefore, to achieve an improved clinical outcome, the differences in clinical and genotypic characteristics should be taken into account in the evaluation and management of such patients, so as to further improve the risk stratification of prognosis and develop targeted therapy. The present article is a comprehensive review of the differences in some common mutant genes between two subtypes of CBF AML.

摘要

核心结合因子(CBF)是一种异二聚体蛋白复合物,参与正常造血过程的转录调控。此外,CBF分子异常约占所有成年急性髓系白血病(AML)患者的20%。与正常核型或其他染色体异常的AML患者相比,接受标准治疗的成年CBF AML患者具有更高的完全缓解(CR)率、更长的CR持续时间和更好的预后。尽管CBF AML的预后优于成年AML的其他亚型,但它仍然是一组异质性疾病,预后往往不同。复发和复发相关死亡是治疗后面临的主要挑战。越来越多的研究表明CBF AML存在基因异质性。因此,为了改善临床结局,在对此类患者进行评估和管理时应考虑临床和基因型特征的差异,从而进一步完善预后风险分层并开发靶向治疗。本文全面综述了CBF AML两种亚型之间一些常见突变基因的差异。

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