title: Genomic landscape of cutaneous T cell lymphoma.
abstract: 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.
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Dermatology, Department of Veterans Affairs Connecticut Healthcare, West Haven, Connecticut, USA.
authors.forename: Jaehyuk
authors.initials: J
authors.lastname: Choi
authors.affiliation: Howard Hughes Medical Institute, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Gerald
authors.identifier: http://orcid.org/0000-0002-3832-6466
authors.initials: G
authors.lastname: Goh
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Trent
authors.initials: T
authors.lastname: Walradt
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Bok S
authors.initials: BS
authors.lastname: Hong
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Bunick
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Kan
authors.initials: K
authors.lastname: Chen
authors.affiliation: Department of Computer Science, Yale University, New Haven, Connecticut, USA.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Bjornson
authors.affiliation: Howard Hughes Medical Institute, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Immunobiology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Yaakov
authors.initials: Y
authors.lastname: Maman
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Jesse
authors.initials: J
authors.lastname: Tordoff
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Kacie
authors.initials: K
authors.lastname: Carlson
authors.affiliation: Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: John D
authors.initials: JD
authors.lastname: Overton
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Kristina J
authors.initials: KJ
authors.lastname: Liu
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Julia M
authors.initials: JM
authors.lastname: Lewis
authors.affiliation: Department of Laboratory Medicine, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Lesley
authors.initials: L
authors.lastname: Devine
authors.affiliation: Department of Medicine (Hematology), Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Barbarotta
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Medicine (Hematology), Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Francine M
authors.initials: FM
authors.lastname: Foss
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Antonio
authors.initials: A
authors.lastname: Subtil
authors.affiliation: Department of Oncology, Sydney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Eric C
authors.initials: EC
authors.lastname: Vonderheid
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Richard L
authors.initials: RL
authors.lastname: Edelson
authors.affiliation: Howard Hughes Medical Institute, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Immunobiology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: David G
authors.initials: DG
authors.lastname: Schatz
authors.affiliation: Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Titus J
authors.initials: TJ
authors.lastname: Boggon
authors.affiliation: Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Girardi
authors.affiliation: Howard Hughes Medical Institute, Yale School of Medicine, New Haven, Connecticut, USA.|Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.|Yale Center for Mendelian Genomics, Yale School of Medicine, New Haven, Connecticut, USA.
authors.forename: Richard P
authors.initials: RP
authors.lastname: Lifton
mesh_terms: D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D059472:Exome; D015870:Gene Expression; D005787:Gene Frequency; D056726:Genetic Association Studies; D023281:Genomics; D006801:Humans; D016410:Lymphoma, T-Cell, Cutaneous / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*; D014407:Tumor Cells, Cultured