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

Research output: Contribution to journalArticlepeer-review

133 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
Pages (from-to)1011-1019
Number of pages9
JournalNature Genetics
Issue number9
StatePublished - 27 Aug 2015
Externally publishedYes

Bibliographical note

Funding Information:
We gratefully acknowledge the participation of the patients who made this research possible. We are grateful to I. Tikhonova and the staff of the Yale Center for Genome Analysis for their expert production of DNA and RNA sequence. Work was supported by the Dermatology Foundation and the Yale Specialized Program of Research Excellence (SPORE) in Skin Cancer Career Development Award (J.C.);. the Yale SPORE in Skin Cancer, P50 CA121974 (T.J.B.); the Agency for Science, Technology and Research, Singapore (G.G.); and US National Institutes of Health (NIH) grant RO1 CA102703 (M.G.). D.G.S. and R.P.L. are investigators of the Howard Hughes Medical Institute.

Publisher Copyright:
© 2015 Nature America, Inc. All rights reserved.


Dive into the research topics of 'Genomic landscape of cutaneous T cell lymphoma'. Together they form a unique fingerprint.

Cite this