Paschka Peter, Döhner Konstanze
1Department of Internal Medicine III, University Hospital of Ulm, Ulm, Germany.
Hematology Am Soc Hematol Educ Program. 2013;2013:209-19. doi: 10.1182/asheducation-2013.1.209.
Acute myeloid leukemia (AML) with t(8;21) or inv(16) is commonly referred to as core-binding factor AML (CBF-AML). The incorporation of high-dose cytarabine for postremission therapy has substantially improved the outcome of CBF-AML patients, especially when administered in the setting of repetitive cycles. For many years, high-dose cytarabine was the standard treatment in CBF-AML resulting in favorable long-term outcome in approximately half of the patients. Therefore, CBF-AML patients are generally considered to be a favorable AML group. However, a substantial proportion of patients cannot be cured by the current treatment. Additional genetic alterations discovered in CBF-AML help in our understanding of the process of leukemogenesis and some of them may refine the risk assessment in CBF-AML and, importantly, also serve as targets for novel therapeutic approaches. We discuss the clinical and genetic heterogeneity of CBF-AML, with a particular focus on the role of KIT mutations as a prognosticator, and also discuss recent efforts to target the KIT kinase in the context of existing therapeutic regimens.
伴有t(8;21)或inv(16)的急性髓系白血病(AML)通常被称为核心结合因子AML (CBF-AML)。高剂量阿糖胞苷用于缓解后治疗显著改善了CBF-AML患者的预后，尤其是在重复疗程的情况下使用时。多年来，高剂量阿糖胞苷一直是CBF-AML的标准治疗方法，约半数患者由此获得了良好的长期预后。因此，CBF-AML患者通常被认为是预后良好的AML亚组。然而，相当一部分患者无法通过当前治疗治愈。在CBF-AML中发现的其他基因改变有助于我们理解白血病发生过程，其中一些改变可能会完善CBF-AML的风险评估，重要的是，还可作为新治疗方法的靶点。我们讨论了CBF-AML的临床和基因异质性，特别关注KIT突变作为预后指标的作用，并讨论了在现有治疗方案背景下靶向KIT激酶的最新研究进展。
