Mutations in AML: prognostic and therapeutic implications
Mutations in AML: prognostic and therapeutic implications
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DOI：
10.1182/asheducation-2016.1.348
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发表时间：
2016-12-01
影响因子：
3
通讯作者：
Cortes, Jorge E.
中科院分区：
文献类型：
--
作者：
DiNardo, Courtney D.;Cortes, Jorge E.
急性髓系白血病（acute myeloid leukemia，AML）是一种异质性血液系统恶性肿瘤，以未成熟克隆性髓系细胞的增殖和异常分化为特征。AML的预后是可变的，基于临床特征，如患者年龄、体能状态和合并症，以及白血病特异性遗传特征，包括细胞遗传学和分子分类。下一代测序技术的现代应用已经揭示了AML中显著的异质性和基因组复杂性，这是基于功能类别（如表观遗传调节因子、细胞信号传导和增殖途径以及主造血转录因子）中是否存在协同突变。尽管AML的治疗在过去40年中几乎没有变化，但对AML病理生理学和白血病发生的科学理解的增强导致了最近多种靶向和选择性治疗方法的发展，我们对功能性AML亚群的认识不断提高，将永远用于为合理和个性化的治疗策略提供信息。
Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized by the proliferation and aberrant differentiation of immature clonal myeloid cells. The prognosis of AML is variable, based on clinical features such as patient age, performance status, and comorbidities, as well as leukemia-specific genetic features including cytogenetics and molecular classification. The modern application of next-generation sequencing technology has uncovered marked heterogeneity and genomic complexity within AML, based on the presence or absence of cooperating mutations within functional categories such as epigenetic regulators, cell signaling and proliferation pathways, and master hematopoietic transcription factors. Although the treatment of AML has hitherto changed little in the past 40 years, the enhanced scientific understanding of AML pathophysiology and leukemogenesis has led to the recent development of multiple targeted and selective treatment approaches, and our increasing awareness of functional AML subsets will be evermore used to inform rational and personalized treatment strategies.