NCT Trial Center, National Center of Tumor Diseases, German Cancer Research Center (DKFZ), Heidelberg.
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University Baltimore, MD.
Haematologica. 2023 Feb 1;108(2):308-320. doi: 10.3324/haematol.2022.280801.
Research into the underlying pathogenic mechanisms of acute myeloid leukemia (AML) has led to remarkable advances in our understanding of the disease. Mutations now allow us to explore the enormous diversity among cytogenetically defined subsets of AML, particularly the large subset of cytogenetically normal AML. Despite the progress in unraveling the tumor genome, only a small number of recurrent mutations have been incorporated into risk-stratification schemes and have been proven to be clinically relevant, targetable lesions. The current World Health Organization Classification of myeloid neoplasms and leukemia includes eight AML categories defined by recurrent genetic abnormalities as well as three categories defined by gene mutations. We here discuss the utility of molecular markers in AML in prognostication and treatment decision-making. New therapies based on targetable markers include IDH inhibitors (ivosidenib, enasidenib), venetoclax-based therapy, FLT3 inhibitors (midostaurin, gilteritinib, and quizartinib), gemtuzumab ozogamicin, magrolimab and menin inhibitors.
对急性髓系白血病 (AML) 潜在发病机制的研究使我们对该疾病的认识取得了显著进展。突变现在使我们能够探索细胞遗传学定义的 AML 亚组之间的巨大多样性,特别是细胞遗传学正常 AML 的大亚组。尽管在揭示肿瘤基因组方面取得了进展,但只有少数反复出现的突变被纳入风险分层方案,并被证明是具有临床相关性的可靶向病变。目前的世界卫生组织髓系肿瘤和白血病分类包括由反复出现的遗传异常定义的八个 AML 类别,以及由基因突变定义的三个类别。我们在这里讨论了分子标志物在 AML 中的预后和治疗决策中的作用。基于可靶向标志物的新疗法包括 IDH 抑制剂(ivosidenib、enasidenib)、venetoclax 为基础的治疗、FLT3 抑制剂(midostaurin、gilteritinib、quizartinib)、gemtuzumab ozogamicin、magrolimab 和 menin 抑制剂。