title: [Genetic landscape of adult T-cell leukemia/lymphoma].
abstract: Adult T-cell leukemia/lymphoma (ATL) is a peripheral T-cell malignancy associated with HTLV-1 infection. To decipher the genetic landscape of ATL, we performed an integrated molecular analysis, which included whole-genome, whole-exome, transcriptome and targeted sequencing, as well as array-based copy number and methylation analyses. The somatic alterations are highly enriched for T-cell receptor/NF-κB signaling, the G-protein coupled receptor associated with T-cell migration, and other T-cell-related pathways as well as immune surveillance related genes. Among these, PLCG1, PRKCB, CARD11, VAV1, IRF4, CCR4, and CCR7 activating mutations and CTLA4-CD28 and ICOS-CD28 fusion genes have been identified. In addition, these genes significantly overlap with HTLV-1 Tax interactome. These results provide an important basis for the development of new ATL diagnostics and therapeuticsregimens.
authors.affiliation: Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kataoka
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
mesh_terms: D019175:DNA Methylation; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D057131:Immune Evasion; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D016328:NF-kappa B / Q000378:metabolism; D011948:Receptors, Antigen, T-Cell / Q000276:immunology; D015398:Signal Transduction
chemical_list: D016328:NF-kappa B; D011948:Receptors, Antigen, T-Cell