Palomero Teresa, Dominguez Maria, Ferrando Adolfo A
Institute for Cancer Genetics-Columbia University, New York, New York, USA.
Cell Cycle. 2008 Apr 15;7(8):965-70. doi: 10.4161/cc.7.8.5753. Epub 2008 Feb 19.
Activating mutations in NOTCH1 are the most prominent genetic abnormality in T-cell acute Lymphoblastic Leukemia (T-ALL) and inhibition of NOTCH1 signaling with gamma-secretase inhibitors (GSIs) has been proposed as targeted therapy in this disease. However, most T-ALL cell lines with mutations in NOTCH1 fail to respond to GSI therapy. Using gene expression profiling and mutation analysis we showed that mutational loss of PTEN is a common event in T-ALL and is associated with resistance to NOTCH inhibition. Furthermore, our studies revealed that NOTCH1 induces upregulation of the PI3K-AKT pathway via HES1, which negatively controls the expression of PTEN. This regulatory circuitry is evolutionary conserved from Drosophila to humans as demonstrated by the interaction of overexpression of Delta and Akt in a model of Notch-induced transformation in the fly eye. Loss of PTEN and constitutive activation of AKT in T-ALL induce increased glucose metabolism and bypass the requirement of NOTCH1 signaling to sustain cell growth. Importantly, PTEN-null/GSI resistant T-ALL cells switch their oncogene addiction from NOTCH1 to AKT and are highly sensitive to AKT inhibitors. These results should facilitate the development of molecular therapies targeting NOTCH1 and AKT for the treatment of T-ALL.
NOTCH1激活突变是T细胞急性淋巴细胞白血病(T-ALL)中最显著的基因异常,使用γ-分泌酶抑制剂(GSIs)抑制NOTCH1信号传导已被提议作为该疾病的靶向治疗方法。然而,大多数NOTCH1突变的T-ALL细胞系对GSI治疗无反应。通过基因表达谱分析和突变分析,我们发现PTEN的突变失活在T-ALL中是常见事件,并且与对NOTCH抑制的抗性相关。此外,我们的研究表明,NOTCH1通过HES1诱导PI3K-AKT途径上调,而HES1负向调控PTEN的表达。从果蝇到人类,这种调控回路在进化上是保守的,如在果蝇眼睛Notch诱导转化模型中Delta和Akt过表达的相互作用所证明。T-ALL中PTEN缺失和AKT的组成性激活导致葡萄糖代谢增加,并绕过NOTCH1信号传导以维持细胞生长的需求。重要的是,PTEN缺失/GSI抗性T-ALL细胞将其癌基因成瘾从NOTCH1转换为AKT,并且对AKT抑制剂高度敏感。这些结果应有助于开发针对NOTCH1和AKT的分子疗法来治疗T-ALL。