This section shows a general overview of information for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.
- Reference
- Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes.
- Paper ID
- COSP40688
- Authors
- Affiliation
- Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
- Journal
-
Nature genetics, 2015;47(12):1426-34
ISSN: 1546-1718
PMID: 26551670 (view at PubMed or Europe PMC) - Abstract
- 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.
- Paper Status
- Curated
- Genes Analysed
- 11330
- Mutated Samples
- 70
- Total No. of Samples
- 105