title: BCL10 gene mutations rarely occur in lymphoid malignancies.
abstract: BCL10, a gene involved in apoptosis signalling, has recently been identified through the cloning of chromosomal breakpoints in extranodal (MALT-type) marginal zone lymphomas carrying the t(1;14)(p22;q32) translocation. BCL10 was also found mutated in these cases as well as in other types of lymphoid and solid tumors, suggesting that its inactivation may play an important pathogenetic role; however, this has been questioned by recent studies showing a lack of somatic mutations in human cancers. We report the mutation analysis of exons 1-3 of the BCL10 gene in DNAs from 228 cases of lymphoid malignancies (30 B cell chronic lymphocytic leukemias, 123 B and 45 T non-Hodgkin's lymphomas and 30 multiple myelomas). Somatic mutations were detected in four cases (approximately 2%): one small lymphocytic, one follicular and two diffuse large cell lymphomas. The mutations were all within exon 3 and have not been previously reported. Our data suggest that BCL10 mutations may play only a limited role in the pathogenesis of lymphoid neoplasms.
authors.affiliation: Laboratorio di Ematologia Sperimentale e Genetica Molecolare, Istituto di Scienze Mediche, Università di Milano, Ospedale Maggiore IRCCS, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Luminari
authors.forename: D
authors.initials: D
authors.lastname: Intini
authors.forename: L
authors.initials: L
authors.lastname: Baldini
authors.forename: E
authors.initials: E
authors.lastname: Berti
authors.forename: F
authors.initials: F
authors.lastname: Bertoni
authors.forename: E
authors.initials: E
authors.lastname: Zucca
authors.forename: L
authors.initials: L
authors.lastname: Cro
authors.forename: A T
authors.initials: AT
authors.lastname: Maiolo
authors.forename: F
authors.initials: F
authors.lastname: Cavalli
authors.forename: A
authors.initials: A
authors.lastname: Neri
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; D001483:Base Sequence; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D016393:Lymphoma, B-Cell / Q000235:genetics*; D016399:Lymphoma, T-Cell / Q000235:genetics*; D009101:Multiple Myeloma / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human; D009363:Neoplasm Proteins