Laboratório de Biologia Molecular, Centro Infantil Boldrini, Campinas, São Paulo, Brazil.
Nat Genet. 2011 Sep 4;43(10):932-9. doi: 10.1038/ng.924.
Interleukin 7 (IL-7) and its receptor, formed by IL-7Rα (encoded by IL7R) and γc, are essential for normal T-cell development and homeostasis. Here we show that IL7R is an oncogene mutated in T-cell acute lymphoblastic leukemia (T-ALL). We find that 9% of individuals with T-ALL have somatic gain-of-function IL7R exon 6 mutations. In most cases, these IL7R mutations introduce an unpaired cysteine in the extracellular juxtamembrane-transmembrane region and promote de novo formation of intermolecular disulfide bonds between mutant IL-7Rα subunits, thereby driving constitutive signaling via JAK1 and independently of IL-7, γc or JAK3. IL7R mutations induce a gene expression profile partially resembling that provoked by IL-7 and are enriched in the T-ALL subgroup comprising TLX3 rearranged and HOXA deregulated cases. Notably, IL7R mutations promote cell transformation and tumor formation. Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL.
白细胞介素 7(IL-7)及其受体由 IL-7Rα(由 IL7R 编码)和 γc 组成,对于正常 T 细胞的发育和稳态至关重要。在这里,我们表明 IL7R 是 T 细胞急性淋巴细胞白血病(T-ALL)中突变的癌基因。我们发现,9%的 T-ALL 患者存在体细胞获得性功能 IL7R 外显子 6 突变。在大多数情况下,这些 IL7R 突变会在细胞外的近膜-跨膜区域引入一个不成对的半胱氨酸,并促进突变的 IL-7Rα 亚基之间新形成分子间二硫键,从而通过 JAK1 驱动组成性信号转导,而不依赖于 IL-7、γc 或 JAK3。IL7R 突变诱导的基因表达谱部分类似于 IL-7 引起的基因表达谱,并且在包含 TLX3 重排和 HOXA 失调的 T-ALL 亚组中富集。值得注意的是,IL7R 突变促进了细胞转化和肿瘤形成。总体而言,我们的研究结果表明,IL7R 突变激活参与了人类 T 细胞白血病的发生,为 T-ALL 中靶向 IL-7R 介导的信号通路的治疗提供了依据。