Genomic landscape of cutaneous T cell lymphoma.
Jaehyuk ChoiGerald GohTrent WalradtBok S HongChristopher G BunickKan ChenRobert D BjornsonYaakov MamanTiffany WangJesse TordoffKacie CarlsonJohn D OvertonKristina J LiuJulia M LewisLesley DevineLisa BarbarottaFrancine M FossAntonio SubtilEric C VonderheidRichard L EdelsonDavid G SchatzTitus J BoggonMichael GirardiRichard P LiftonPublished in: Nature genetics (2015)
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.
Keyphrases
- copy number
- genome wide
- mitochondrial dna
- dna damage response
- cell cycle arrest
- single cell
- dna methylation
- induced apoptosis
- oxidative stress
- pi k akt
- signaling pathway
- cell death
- endoplasmic reticulum stress
- gene expression
- dna damage
- circulating tumor
- dna repair
- transcription factor
- small molecule
- lps induced
- wound healing
- nuclear factor