Krejci Ondrej, Wunderlich Mark, Geiger Hartmut, Chou Fu-Sheng, Schleimer David, Jansen Michael, Andreassen Paul R, Mulloy James C
Division of Experimental Hematology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, OH 45226, USA.
Blood. 2008 Feb 15;111(4):2190-9. doi: 10.1182/blood-2007-06-093682. Epub 2007 Nov 1.
Chromosomal translocation (8;21) is present in 10% to 15% of patients with acute myeloid leukemia. Expression of the AML1-ETO (AE) fusion protein alone is not sufficient to induce leukemia, but the nature of the additional genetic alterations is unknown. It is unclear whether AE facilitates acquisition of these cooperating events. We show that AE down-regulates genes involved in multiple DNA repair pathways, potentially through a mechanism involving direct binding at promoter elements, and increases the mutation frequency in vivo. AE cells display increased DNA damage in vitro and have an activated p53 pathway. This results in increased basal apoptosis and enhanced sensitivity to DNA damaging agents. Intriguingly, microarray data indicate that t(8;21) patient samples exhibit decreased expression of DNA repair genes and increased expression of p53 response genes compared with other acute myeloid leukemia (AML) patient samples. Inhibition of the p53 pathway by RNAi increases the resistance of AE cells to DNA damage. We thus speculate that AML1-ETO may facilitate accumulation of genetic alterations by suppressing endogenous DNA repair. It is possible that the superior outcome of t(8;21) patients is partly due to an activated p53 pathway, and that loss of the p53 response pathway is associated with disease progression.
染色体易位(8;21)存在于10%至15%的急性髓系白血病患者中。单独的AML1-ETO(AE)融合蛋白的表达不足以诱发白血病,但其他基因改变的性质尚不清楚。目前尚不清楚AE是否促进了这些协同事件的发生。我们发现,AE可能通过一种涉及直接结合启动子元件的机制下调多个DNA修复途径中的相关基因,并在体内增加突变频率。AE细胞在体外表现出DNA损伤增加,且p53途径被激活。这导致基础凋亡增加,并增强了对DNA损伤剂的敏感性。有趣的是,微阵列数据表明,与其他急性髓系白血病(AML)患者样本相比,t(8;21)患者样本中DNA修复基因的表达降低,而p53反应基因的表达增加。通过RNA干扰抑制p53途径可增加AE细胞对DNA损伤的抗性。因此,我们推测AML1-ETO可能通过抑制内源性DNA修复促进基因改变的积累。t(8;21)患者较好的预后可能部分归因于激活的p53途径,而p53反应途径的缺失与疾病进展相关。