title: Molecular characterization of 11q deletions points to a pathogenic role of the ATM gene in mantle cell lymphoma.
abstract: Deletions involving the long arm of chromosome 11 (11q) have been recently found as recurrent chromosome aberrations in mantle cell lymphoma (MCL). In the current study, the incidence and molecular extent of 11q deletions were analyzed in a series of 81 MCL by fluorescence in situ hybridization with probes from a contiguous set of yeast artificial chromosomes (YACs). Loss of chromosome 11 material was observed in 37 of 81 cases (46%). The minimally deleted segment comprised YAC 801e11 containing the ATM gene. To further narrow the minimal region of loss, P1-derived artificial chromosomes mapping to the critical region were isolated and used as probes in cases without aberrations detectable with YACs. This allowed the identification of an ATM deletion that was beyond the resolution of YAC probes. The identification of a minimally deleted segment affecting ATM suggests a pathogenic role of ATM as a tumor suppressor gene in MCL.
authors.affiliation: Department of Internal Medicine III, University of Ulm, Ulm, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Stilgenbauer
authors.forename: D
authors.initials: D
authors.lastname: Winkler
authors.forename: G
authors.initials: G
authors.lastname: Ott
authors.forename: C
authors.initials: C
authors.lastname: Schaffner
authors.forename: E
authors.initials: E
authors.lastname: Leupolt
authors.forename: M
authors.initials: M
authors.lastname: Bentz
authors.forename: P
authors.initials: P
authors.lastname: Möller
authors.forename: H K
authors.initials: HK
authors.lastname: Müller-Hermelink
authors.forename: M R
authors.initials: MR
authors.lastname: James
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: H
authors.initials: H
authors.lastname: Döhner
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D018244:Chromosomes, Artificial, Yeast; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins; D006801:Humans; D020522:Lymphoma, Mantle-Cell / Q000209:etiology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases