Genomic landscape of cutaneous T cell lymphoma

Jaehyuk Choi, Gerald Goh, Trent Walradt, Bok S. Hong, Christopher G. Bunick, Kan Chen, Robert D. Bjornson, Yaakov Maman, Tiffany Wang, Jesse Tordoff, Kacie Carlson, John D. Overton, Kristina J. Liu, Julia M. Lewis, Lesley Devine, Lisa Barbarotta, Francine M. Foss, Antonio Subtil, Eric C. Vonderheid, Richard L. EdelsonDavid G. Schatz, Titus J. Boggon, Michael Girardi, Richard P. Lifton*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

212 Scopus citations


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 languageEnglish (US)
Pages (from-to)1011-1019
Number of pages9
JournalNature Genetics
Issue number9
StatePublished - Aug 27 2015

ASJC Scopus subject areas

  • Genetics

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