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-ΰ B 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.
| Original language | English |
|---|---|
| Pages (from-to) | 1011-1019 |
| Number of pages | 9 |
| Journal | Nature Genetics |
| Volume | 47 |
| Issue number | 9 |
| DOIs | |
| State | Published - Sep 2015 |
| Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Genetics
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