Genomic landscape of cutaneous T cell lymphoma

Autor:	Yaakov Maman, Lisa Barbarotta, Richard L. Edelson, Trent Walradt, Titus J. Boggon, Christopher G. Bunick, Antonio Subtil, Richard P. Lifton, Kristina J. Liu, Kacie R. Carlson, Francine M. Foss, Lesley Devine, Robert D. Bjornson, Eric C. Vonderheid, Jesse Tordoff, Michael Girardi, Jaehyuk Choi, John D. Overton, Kan Chen, David G. Schatz, Bok Sil Hong, Tiffany Wang, Julia M. Lewis, Gerald Goh
Rok vydání:	2015
Předmět:	Skin Neoplasms DNA Copy Number Variations Somatic cell DNA damage T cell DNA Mutational Analysis Mutation Missense Gene Expression Biology Polymorphism Single Nucleotide Article Chromatin remodeling 03 medical and health sciences 0302 clinical medicine Gene Frequency hemic and lymphatic diseases Tumor Cells Cultured Genetics medicine Humans Exome Gene Genetic Association Studies 030304 developmental biology 0303 health sciences Cutaneous T-cell lymphoma Genomics medicine.disease Molecular biology Lymphoma T-Cell Cutaneous 3. Good health Lymphoma medicine.anatomical_structure 030220 oncology & carcinogenesis Cancer research
Zdroj:	Nature genetics
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng.3356
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c93b0b46ee637d65e99f121e624df3 https://doi.org/10.1038/ng.3356 Zobrazit plný text záznamu Plný text ve formátu PDF