Hu Zhilin, Tang Xue, Chen Fen, Li Tonghui, Liu Yi, Zhou Guichi, Liu Shilin, Wang Ying, Liu Sixi, Mai Huirong, Wang Lulu
Shantou University Medical College, Shantou, Guangdong, China.
Department of Hematology and Oncology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
Ther Adv Hematol. 2025 Apr 16;16:20406207251330064. doi: 10.1177/20406207251330064. eCollection 2025.
Core-binding factor acute myeloid leukemia (CBF-AML) is a subtype of AML characterized by specific genetic rearrangements, including t(8;21) and inv(16), which are associated with a relatively favorable prognosis with relapse rates around 30%. The mutational profiling of CBF-AML is highly heterogeneous in pediatrics, with mutations in the tyrosine kinase pathway (including , and ), epigenetic regulators, cohesin, and additional cytogenetic abnormalities. The identification of high-risk mutations, such as those in and , underscores the need for targeted therapies and highlights the importance of high-throughput sequencing technologies, providing critical insights into the prognosis and informing treatment strategies. Integrating targeted agents with existing treatment protocols has the potential to enhance treatment efficacy and significantly improve patient outcomes. However, CBF-AML presents significant heterogeneity in both pathophysiology and clinical characteristics, with cooperating cytogenetic mutations, leading to difficulties and uncertainties in the prognosis and treatment of CBF-AML in pediatrics. Given the relapse rates and the significant impact of specific mutations on prognosis, there is a critical need for improved risk stratification and personalized treatment approaches in pediatric CBF-AML. Ongoing research and clinical trials focusing on the molecular and genetic profiling of pediatric CBF-AML will be essential for developing more effective and targeted therapies, ultimately improving patient outcomes. This review summarizes the molecular genetics profiling in CBF-AML among pediatrics, targeting its effect and interactions on prognosis and treatment to provide an overview for further research based on mutations among CBF-AML in pediatrics.
核心结合因子急性髓系白血病（CBF-AML）是急性髓系白血病的一种亚型，其特征为特定的基因重排，包括t(8;21)和inv(16)，这些重排与相对较好的预后相关，复发率约为30%。儿童CBF-AML的突变谱高度异质性，存在酪氨酸激酶途径（包括 、 和 ）、表观遗传调节因子、黏连蛋白的突变以及其他细胞遗传学异常。识别高危突变，如 和 中的突变，凸显了靶向治疗的必要性，并突出了高通量测序技术的重要性，为预后提供了关键见解并指导治疗策略。将靶向药物与现有治疗方案相结合有可能提高治疗效果并显著改善患者预后。然而，CBF-AML在病理生理学和临床特征方面均表现出显著的异质性，伴有协同的细胞遗传学突变，这导致儿童CBF-AML的预后和治疗存在困难和不确定性。鉴于复发率以及特定突变对预后的重大影响，迫切需要改进儿童CBF-AML的风险分层和个性化治疗方法。针对儿童CBF-AML的分子和基因谱分析的正在进行的研究和临床试验对于开发更有效、更有针对性的治疗方法至关重要，最终可改善患者预后。本综述总结了儿童CBF-AML的分子遗传学谱分析，针对其对预后和治疗的影响及相互作用，以便基于儿童CBF-AML中的突变情况为进一步研究提供概述。
