title: IRF4 mutations in chronic lymphocytic leukemia.
abstract: Interferon regulatory factor 4 (IRF4) is a member of the interferon regulatory factor family of transcription factors and has been shown to have critical functions at several stages of B-cell development. Genome-wide association study identified a polymorphism in the 3' untranslated region of IRF4 as a chronic lymphocytic leukemia risk locus. In this study, we report a recurrent heterozygous somatic mutation in the DNA-binding domain of IRF4 detected in 7 of 457 chronic lymphocytic leukemia patients (1.5%). Patients with IRF4 mutation have a good prognosis, and 4 of 6 have a trisomy 12. We also found that IRF4 mRNA expression is higher in the patients with the mutation.
authors.affiliation: Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.
authors.forename: Violaine
authors.initials: V
authors.lastname: Havelange
authors.forename: Yuri
authors.initials: Y
authors.lastname: Pekarsky
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Nakamura
authors.forename: Alexey
authors.initials: A
authors.lastname: Palamarchuk
authors.forename: Hansjuerg
authors.initials: H
authors.lastname: Alder
authors.forename: Laura
authors.initials: L
authors.lastname: Rassenti
authors.forename: Thomas
authors.initials: T
authors.lastname: Kipps
authors.forename: Carlo M
authors.initials: CM
authors.lastname: Croce
mesh_terms: D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014314:Trisomy; D000099218:Interferon Regulatory Factor-4
chemical_list: D004273:DNA, Neoplasm; D050835:Interferon Regulatory Factors; D000099218:Interferon Regulatory Factor-4