Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy in terms of clinical features, underlying pathogenesis and treatment outcomes. Recent advances in genomic techniques have unraveled the molecular complexity of AML leukemogenesis, which in turn have led to refinement of risk stratification and personalized therapeutic strategies for patients with AML. Incorporation of prognostic and druggable genetic biomarkers into clinical practice to guide patient-specific treatment is going to be the mainstay in AML therapeutics. Since 2017 there has been an explosion of novel treatment options to tailor personalized therapy for AML patients. In the past 3 years, the U.S. Food and Drug Administration approved a total of eight drugs for the treatment of AML; most specifically target certain gene mutations, biological pathways, or surface antigen. These novel agents are especially beneficial for older patients or those with comorbidities, in whom the treatment choice is limited and the clinical outcome is very poor. How to balance efficacy and toxicity to further improve patient outcome is clinically relevant. In this review article, we give an overview of the most relevant genetic markers in AML with special focus on the therapeutic implications of these aberrations.

中文翻译：

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急性髓性白血病的基因组情况及其在风险分类和靶向治疗中的意义。

就临床特征，潜在的发病机制和治疗结果而言，急性髓细胞性白血病（AML）是一种异质性血液系统恶性肿瘤。基因组技术的最新进展揭示了AML白血病发生的分子复杂性，这反过来又导致了AML患者的风险分层和个性化治疗策略的完善。将预后和可药物治疗的遗传生物标记物纳入临床实践以指导患者特异性治疗将成为AML治疗的主要手段。自2017年以来，针对AML患者的个性化治疗量身定制的新型治疗方法不断涌现。在过去的三年中，美国食品药品监督管理局共批准了八种治疗AML的药物。最具体地针对某些基因突变，生物学途径，或表面抗原。这些新药对治疗选择受限且临床效果非常差的老年患者或合并症患者特别有益。如何平衡功效和毒性以进一步改善患者预后与临床相关。在这篇综述文章中，我们概述了AML中最相关的遗传标记，特别关注了这些畸变的治疗意义。