The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia
Open accessAbstract
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.
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Cites
1 retracted
Crucial role of interleukin-7 in T helper type 17 survival and expansion in autoimmune disease
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Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia
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Self-citationDefective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
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Cited by
Inaba, H., Greaves, M., & Mullighan, C. G. (2013) · The Lancet · doi:10.1016/s0140-6736(12)62187-4 · Cited by 1,074
JAKs and STATs in immunity, immunodeficiency, and cancer
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The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia
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Pediatric acute lymphoblastic leukemia
Inaba, H., & Mullighan, C. G. (2020) · Haematologica · doi:10.3324/haematol.2020.247031 · Cited by 696
RNA G-quadruplexes cause eIF4A-dependent oncogene translation in cancer
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Metadata
- Authors
- Zenatti, P. P., Ribeiro, D., Li, W., Zuurbier, L., Silva, M. C., Paganin, M., Tritapoe, J., Hixon, J. A., Silveira, A. B., Cardoso, B. A., Sarmento, L. M., Correia, N., Toribio, M. L., Kobarg, J., Horstmann, M., Pieters, R., Brandalise, S. R., Ferrando, A. A., Meijerink, J. P., Durum, S. K., Yunes, J. A., & Barata, J. T.
- Venue
- Nature Genetics
- Published
- 2011-09-04
- Volume
- 43
- Issue
- 10
- Pages
- 932-939
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2039616075
- Cited by
- 416
- References
- 49
- FWCI
- 30.57
- Type
- journal article
- Language
- en
- Open access
- green
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- Zenatti, P. P., Ribeiro, D., Li, W., Zuurbier, L., Silva, M. C., Paganin, M., Tritapoe, J., Hixon, J. A., Silveira, A. B., Cardoso, B. A., Sarmento, L. M., Correia, N., Toribio, M. L., Kobarg, J., Horstmann, M., Pieters, R., Brandalise, S. R., Ferrando, A. A., Meijerink, J. P., . . . Barata, J. T. (2011). Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nature Genetics. https://doi.org/10.1038/ng.924
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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