Direkt zum Inhalt
Merck

Genomic landscape of cutaneous T cell lymphoma.

Nature genetics (2015-07-21)
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 Edelson, David G Schatz, Titus J Boggon, Michael Girardi, Richard P Lifton
ZUSAMMENFASSUNG

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.

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Marke
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