Genomic landscape of cutaneous T cell lymphoma

Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes. We performed exome and whole genome DNA sequence 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...

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Detalles Bibliográficos
Autores principales: Choi, Jaehyuk, Goh, Gerald, Walradt, Trent, Hong, Bok S., Bunick, Christopher G., Chen, Kan, Bjornson, Robert D., Maman, Yaakov, Wang, Tiffany, Tordoff, Jesse, Carlson, Kacie, Overton, John D., Liu, Kristina J., Lewis, Julia M., Devine, Lesley, Barbarotta, Lisa, Foss, Francine M., Subtil, Antonio, Vonderheid, Eric C., Edelson, Richard L., Schatz, David G., Boggon, Titus J., Girardi, Michael, Lifton, Richard P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552614/
https://www.ncbi.nlm.nih.gov/pubmed/26192916
http://dx.doi.org/10.1038/ng.3356
Descripción
Sumario:Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes. We performed exome and whole genome DNA sequence 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, NFκB 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 vs. 1.0 somatic single nucleotide variants per CTCL). These findings have implications for novel therapeutics.

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