title: Detection of ATM gene deletion/duplication by multiplex ligation-dependant probe amplification in childhood lymphoid malignancies: a report from the Children's Oncology Group.
abstract: ATM gene alterations have been described in various lymphoproliferative malignancies suggesting that ATM contributes to lymphomagenesis. Using multiplex ligation-dependant probe amplification (MLPA), we screened 61 childhood lymphoid malignancies for ATM genomic deletion/duplication. Five samples were found to have a complete deletion or duplication. All the three deletions were found in B-precursor ALL (15%), two were submicroscopic, not detected by standard cytogenetic studies. These observations indicate that as in adult ALL, complete ATM submicroscopic deletion is frequent in childhood B-precursor ALL. As previously hypothesized, these results suggest that ATM may act as a tumor suppressor gene in the pathogenesis of childhood B-precursor ALL.
authors.affiliation: Department of Pediatrics, Unit of Hemato-Oncology, University Hospital of Geneva, Switzerland. Fabienne.GumyPause@medecine.unige.ch
authors.forename: Fabienne
authors.initials: F
authors.lastname: Gumy-Pause
authors.forename: Hulya
authors.initials: H
authors.lastname: Ozsahin
authors.forename: Mary
authors.initials: M
authors.lastname: Khoshbeen-Boudal
authors.forename: David R
authors.initials: DR
authors.lastname: Betts
authors.forename: Philippe
authors.initials: P
authors.lastname: Maillet
authors.forename: André-Pascal
authors.initials: AP
authors.lastname: Sappino
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005784:Gene Amplification; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D008223:Lymphoma / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D015016:Yohimbine
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; D015016:Yohimbine; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases