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Genomic landscape of cutaneous T cell lymphoma

2015; Nature Portfolio; Volume: 47; Issue: 9 Linguagem: Inglês

10.1038/ng.3356

1546-1718

Jaehyuk Choi, Gerald Goh, Trent Walradt, Bok Sil Hong, Christopher G. Bunick, Kan Chen, Robert Bjornson, Yaakov Maman, Tiffany Wang, Jesse Tordoff, Kacie R. Carlson, John D. Overton, Kristina J. Liu, Julia M. Lewis, Lesley Devine, Lisa Barbarotta, Francine M. Foss, Antonio Subtil, Eric C. Vonderheid, Richard L. Edelson, David G. Schatz, Titus J. Boggon, Michael Girardi, Richard P. Lifton,

Fungal Infections and Studies

Richard Lifton and colleagues report a genomic analysis of cutaneous T cell lymphoma (CTCL). Their results implicate several pathways in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-κB signaling, chromatin remodeling and DNA damage response. Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes. We performed exome and whole-genome DNA sequencing and RNA sequencing on purified CTCL and matched normal cells. The results implicate mutations in 17 genes in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-κB signaling, chromatin remodeling and DNA damage response. CTCL is distinctive in that somatic copy number variants (SCNVs) comprise 92% of all driver mutations (mean of 11.8 pathogenic SCNVs versus 1.0 somatic single-nucleotide variant per CTCL). These findings have implications for new therapeutics.