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	Anne Gardiner, Helen Parker, Sharron Glide, Sarah Mould, Hazel Robinson, Ian Tracy, Tanja Stankovic, David Oscier, Jon Strefford
Journal	Leukemia research (Leuk Res) Vol. 36 Issue 3 Pg. 307-10 (Mar 2012) ISSN: 1873-5835 [Electronic] England
PMID	21955805 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright	Crown Copyright © 2011. Published by Elsevier Ltd. All rights reserved.
Chemical References	Cell Cycle Proteins DNA Probes DNA-Binding Proteins TP53 protein, human Tumor Suppressor Protein p53 Tumor Suppressor Proteins ATM protein, human Ataxia Telangiectasia Mutated Proteins Protein Serine-Threonine Kinases
Topics	Adult Aged, 80 and over Ataxia Telangiectasia Mutated Proteins Cell Cycle Proteins (genetics) Chromosome Deletion Chromosomes, Human, Pair 11 (genetics) DNA Probes DNA-Binding Proteins (genetics) Female Humans In Situ Hybridization, Fluorescence Leukemia, Lymphocytic, Chronic, B-Cell (genetics) Male Middle Aged Mutation (genetics) Polymorphism, Single Nucleotide (genetics) Prognosis Protein Serine-Threonine Kinases (genetics) Survival Rate Tumor Suppressor Protein p53 (genetics) Tumor Suppressor Proteins (genetics)

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