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

Genomic landscape of cutaneous T cell lymphoma.

Author information

  • 1Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
  • 2Department of Dermatology, Department of Veterans Affairs Connecticut Healthcare, West Haven, Connecticut, USA.
  • 3Howard Hughes Medical Institute, Yale School of Medicine, New Haven, Connecticut, USA.
  • 4Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
  • 5Department of Computer Science, Yale University, New Haven, Connecticut, USA.
  • 6Department of Immunobiology, Yale School of Medicine, New Haven, Connecticut, USA.
  • 7Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
  • 8Department of Laboratory Medicine, Yale School of Medicine, New Haven, Connecticut, USA.
  • 9Department of Medicine (Hematology), Yale School of Medicine, New Haven, Connecticut, USA.
  • 10Department of Oncology, Sydney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • 11Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut, USA.
  • 12Yale Center for Mendelian Genomics, Yale School of Medicine, New Haven, Connecticut, USA.

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.

PMID:
26192916
PMCID:
PMC4552614
DOI:
10.1038/ng.3356
[PubMed - indexed for MEDLINE]
Free PMC Article
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