Genomic landscape of cutaneous T cell lymphoma

J Choi, G Goh, T Walradt, BS Hong, CG Bunick… - Nature …, 2015 - nature.com
J Choi, G Goh, T Walradt, BS Hong, CG Bunick, K Chen, RD Bjornson, Y Maman, T Wang…
Nature genetics, 2015nature.com
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 …
Abstract
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.
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