Ustun Celalettin, Marcucci Guido
aUniversity of Minnesota, Department of Medicine, Division of Hematology, Oncology and Transplantation, Minneapolis, Minnesota bGehr Family Leukemia Center, City of Hope Comprehensive Cancer Center, Duarte, California, USA.
Curr Opin Hematol. 2015 Mar;22(2):85-91. doi: 10.1097/MOH.0000000000000124.
In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22) and/or the corresponding molecular rearrangements RUNX1/RUNX1T1 and CBFB/MYH11 [collectively referred to as core binding factor (CBF) AML] predict for a more favourable outcome in patients receiving cytarabine-anthracycline based induction and upon achievement of complete remission, high-dose cytarabine consolidation chemotherapy. However, 40-45% of these patients eventually relapse and die of their disease. Here, we review emerging molecular and therapeutic results that may be used to guide the clinical management of this subset of patients.
Integration of cytogenetic results with molecular genetic and epigenetic data refines the diagnosis, classification and risk-stratification of CBF AML. Clinical studies with targeting compounds (e.g. gemtuzumab ozogamicin, dasatinib) added to intensive chemotherapy appear beneficial both in younger and older patients, albeit the latter continue to have a significantly worse outcome than the former. Regularly molecular monitoring of disease during remission may provide a strategy for early therapeutic intervention before overt relapse.
Emerging evidence supports that novel diagnostic, treatment and molecular disease monitoring approaches may improve the prognosis of CBF AML.
在急性髓系白血病（AML）中，存在t(8;21)(q22;q22)和inv(16)(p13q22)/t(16;16)(p13;q22)以及/或者相应的分子重排RUNX1/RUNX1T1和CBFB/MYH11 [统称为核心结合因子（CBF）AML]预示着接受基于阿糖胞苷-蒽环类药物诱导治疗且达到完全缓解后接受大剂量阿糖胞苷巩固化疗的患者预后更佳。然而，这些患者中有40%-45%最终会复发并死于该疾病。在此，我们综述了可能用于指导这部分患者临床管理的新出现的分子和治疗结果。
将细胞遗传学结果与分子遗传学和表观遗传学数据相结合可优化CBF AML的诊断、分类和风险分层。在强化化疗中加入靶向化合物（如吉妥珠单抗奥唑米星、达沙替尼）的临床研究对年轻和老年患者似乎都有益，尽管老年患者的预后仍明显比年轻患者差。在缓解期定期对疾病进行分子监测可为明显复发前的早期治疗干预提供一种策略。
新出现的证据支持，新的诊断、治疗和分子疾病监测方法可能改善CBF AML的预后。
