Genomic landscape of cutaneous T cell lymphoma

Nat Genet. 2015 Sep;47(9):1011-9. doi: 10.1038/ng.3356. Epub 2015 Jul 20.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • Exome
  • Gene Expression
  • Gene Frequency
  • Genetic Association Studies
  • Genomics
  • Humans
  • Lymphoma, T-Cell, Cutaneous / genetics*
  • Lymphoma, T-Cell, Cutaneous / metabolism
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • Skin Neoplasms / genetics*
  • Tumor Cells, Cultured