title: A new minimal deleted region at 11q22.3 reveals the importance of interpretation of diminished FISH signals and the choice of probe for ATM deletion screening in chronic lymphocytic leukemia.
abstract: Deletion of ATM detected by fluorescent in situ hybridization (FISH) in chronic lymphocytic leukemia predicts short treatment free survival and poor outcome following alkylator/purine analogue therapy. We describe five cases, with a diminished ATM FISH signal, investigated by TP53 mutation/dysfunction studies and single nucleotide polymorphism (SNP) array. The diminished signal represented loss of the ATM gene, which could have been missed were the cases not further investigated. These rare cases highlight the need for careful consideration of the choice of probe and interpretation of unusual signal patterns in FISH screening. We define a new minimal region of deletion at 11q22.3.
authors.affiliation: Department of Hematology, Royal Bournemouth Hospital, Castle Lane East, Bournemouth, UK. annecgardiner@hotmail.com
authors.forename: Anne
authors.initials: A
authors.lastname: Gardiner
authors.forename: Helen
authors.initials: H
authors.lastname: Parker
authors.forename: Sharron
authors.initials: S
authors.lastname: Glide
authors.forename: Sarah
authors.initials: S
authors.lastname: Mould
authors.forename: Hazel
authors.initials: H
authors.lastname: Robinson
authors.forename: Ian
authors.initials: I
authors.lastname: Tracy
authors.forename: Tanja
authors.initials: T
authors.lastname: Stankovic
authors.forename: David
authors.initials: D
authors.lastname: Oscier
authors.forename: Jon
authors.initials: J
authors.lastname: Strefford
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D015342:DNA Probes; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015996:Survival Rate; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D015342:DNA Probes; D004268:DNA-Binding Proteins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases