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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

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