The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes
Open accessAbstract
Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that implicates dysregulation of cell cycle checkpoint and T cell signaling. Frequent somatic alterations were identified in TP53, CARD11, CCR4, PLCG1, CDKN2A, ARID1A, RPS6KA1 and ZEB1. Activating CCR4 and CARD11 mutations were detected in nearly one-third of patients. ZEB1, encoding a transcription repressor essential for T cell differentiation, was deleted in over one-half of patients. IL32 and IL2RG were overexpressed in nearly all cases. Our results demonstrate profound disruption of key signaling pathways in Sézary syndrome and suggest potential targets for new therapies.
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Cited by
Phospholipase C families: Common themes and versatility in physiology and pathology
Katan, M., & Cockcroft, S. (2020) · Progress in Lipid Research · doi:10.1016/j.plipres.2020.101065 · Cited by 89
Metadata
- Authors
- Wang, L., Ni, X., Covington, K. R., Yang, B. Y., Shiu, J., Zhang, X., Xi, L., Meng, Q., Langridge, T., Drummond, J., Donehower, L. A., Doddapaneni, H., Muzny, D. M., Gibbs, R. A., Wheeler, D. A., & Duvic, M.
- Venue
- Nature Genetics
- Published
- 2015-11-09
- Volume
- 47
- Issue
- 12
- Pages
- 1426-1434
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2195886524
- Cited by
- 323
- References
- 62
- FWCI
- 30.30
- Type
- journal article
- Language
- en
- Open access
- green
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- Wang, L., Ni, X., Covington, K. R., Yang, B. Y., Shiu, J., Zhang, X., Xi, L., Meng, Q., Langridge, T., Drummond, J., Donehower, L. A., Doddapaneni, H., Muzny, D. M., Gibbs, R. A., Wheeler, D. A., & Duvic, M. (2015). Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes. Nature Genetics. https://doi.org/10.1038/ng.3444
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