title: Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma.
abstract: Janus kinase 1 (JAK1) and JAK3 plays a critical role in lymphocyte proliferation and differentiation. Somatic JAK1 mutations are found in 18% of adult precursor T acute lymphoblastic leukemias and somatic JAK3 mutations are found in 3.3% of cutaneous T cell lymphomas. Some of the mutations are confirmed as a gain-of-function mutation and are assumed to be involved in leukemogenesis. Adult T cell leukemia/lymphoma (ATLL) is a type of T cell neoplasm, and activation of JAK/STAT pathways is sometimes observed in them. We investigated JAK1 and JAK3 mutations in 20 ATLL patients. No JAK1 mutations were found, and five types of single nucleotide polymorphisms were observed in 12 cases, whose frequencies almost match those in Asian populations. As for JAK3, a synonymous mutation was found in one case. JAK1 and JAK3 mutations are unlikely involved in the leukemogenesis of ATLL.
authors.affiliation: Department of Gastroenterology and Hematology, Faculty of Medicine, Miyazaki University, Kiyotake, Miyazaki, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kameda
authors.forename: K
authors.initials: K
authors.lastname: Shide
authors.forename: H K
authors.initials: HK
authors.lastname: Shimoda
authors.forename: T
authors.initials: T
authors.lastname: Hidaka
authors.forename: Y
authors.initials: Y
authors.lastname: Kubuki
authors.forename: K
authors.initials: K
authors.lastname: Katayose
authors.forename: Y
authors.initials: Y
authors.lastname: Taniguchi
authors.forename: M
authors.initials: M
authors.lastname: Sekine
authors.forename: A
authors.initials: A
authors.lastname: Kamiunntenn
authors.forename: K
authors.initials: K
authors.lastname: Maeda
authors.forename: K
authors.initials: K
authors.lastname: Nagata
authors.forename: T
authors.initials: T
authors.lastname: Matsunaga
authors.forename: K
authors.initials: K
authors.lastname: Shimoda
mesh_terms: D000328:Adult; D002454:Cell Differentiation; D049109:Cell Proliferation; D004252:DNA Mutational Analysis; D006801:Humans; D053613:Janus Kinase 1 / Q000235:genetics*; D053616:Janus Kinase 3 / Q000235:genetics*; D007564:Japan; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D053613:Janus Kinase 1; D053616:Janus Kinase 3