title: Translocation t(2;11) in CLL cells results in CXCR4/MAML2 fusion oncogene.
abstract: Recent investigations of chromosomal aberrations in chronic lymphocytic leukemia (CLL) led to a better understanding of the molecular causes of CLL. Here we report a rearrangement between MAML2 (mastermind-like protein 2) and CXCR4 (specific receptor for CXC chemokine stromal cell-derived factor-1) in CLL cells of a patient with a t(2;11)(q22.1;q21) chromosomal translocation. The rearrangement between MAML2 and CXCR4, created by a t(2;11)(q22.1;q21) translocation, results in a new fusion gene in which a portion of CXCR4 is linked to the MAML2 gene. This fusion gene encodes for CXCR4/MAML2 protein chimera in which the N-terminal basic domain of MAML2 is replaced by the N-terminal domain of CXCR4.
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Mario
authors.initials: M
authors.lastname: Acunzo
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Giulia
authors.initials: G
authors.lastname: Romano
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Dorothee
authors.initials: D
authors.lastname: Wernicke
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Veronica
authors.initials: V
authors.lastname: Balatti
authors.affiliation: Department of Medicine and.
authors.forename: Laura Z
authors.initials: LZ
authors.lastname: Rassenti
authors.affiliation: Cytogenetic Laboratory, School of Medicine, University of California at San Diego, La Jolla, CA.
authors.forename: Marie
authors.initials: M
authors.lastname: dell'Aquila
authors.affiliation: Department of Medicine and.
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Kipps
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Pekarsky
authors.affiliation: Departments of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center and Medicine, The Ohio State University, Columbus, OH; and.
authors.forename: Carlo M
authors.initials: CM
authors.lastname: Croce
mesh_terms: D000818:Animals; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells / Q000378:metabolism / Q000473:pathology; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology; D051379:Mice; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D019718:Receptors, CXCR4 / Q000737:chemistry / Q000235:genetics*; D015534:Trans-Activators; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: C527276:CXCR4 protein, human; D004268:DNA-Binding Proteins; C471297:MAML2 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D019718:Receptors, CXCR4; D015534:Trans-Activators; D014157:Transcription Factors