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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

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
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
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.
cll, atm screening, 11q23 mdr, snp array, FISH, diminished FISH signal
0145-2126
307-310
Gardiner, Anne
31ec2c9a-dccb-468f-83d1-d4f03ac88f33
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Glide, Sharron
74056ec1-5cb0-4c90-856e-1691bcaf07cc
Mould, Sarah
1beb42f6-2dc0-4e7e-8922-14d60b08e2d7
Robinson, Hazel M.
c406aa02-ca17-4ba1-9aa4-24bab6415fc0
Tracy, Ian
ed693c37-ceed-451d-8ede-6d334fa8e80c
Stankovic, Tanja
4c7980b9-c6b0-4444-875e-c6b5ec8d08a8
Oscier, David G.
c2620a1d-25bb-48f7-9651-f5d023636381
Strefford, Jon C.
3782b392-f080-42bf-bdca-8aa5d6ca532f
Gardiner, Anne
31ec2c9a-dccb-468f-83d1-d4f03ac88f33
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Glide, Sharron
74056ec1-5cb0-4c90-856e-1691bcaf07cc
Mould, Sarah
1beb42f6-2dc0-4e7e-8922-14d60b08e2d7
Robinson, Hazel M.
c406aa02-ca17-4ba1-9aa4-24bab6415fc0
Tracy, Ian
ed693c37-ceed-451d-8ede-6d334fa8e80c
Stankovic, Tanja
4c7980b9-c6b0-4444-875e-c6b5ec8d08a8
Oscier, David G.
c2620a1d-25bb-48f7-9651-f5d023636381
Strefford, Jon C.
3782b392-f080-42bf-bdca-8aa5d6ca532f

Gardiner, Anne, Parker, Helen, Glide, Sharron, Mould, Sarah, Robinson, Hazel M., Tracy, Ian, Stankovic, Tanja, Oscier, David G. and Strefford, Jon C. (2012) 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. Leukemia Research, 36 (3), 307-310. (doi:10.1016/j.leukres.2011.08.002). (PMID:21955805)

Record type: Article

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.

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More information

Published date: March 2012
Keywords: cll, atm screening, 11q23 mdr, snp array, FISH, diminished FISH signal
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 351017
URI: https://eprints.soton.ac.uk/id/eprint/351017
ISSN: 0145-2126
PURE UUID: cbff5e08-7e55-430b-b672-92898168be63
ORCID for Helen Parker: ORCID iD orcid.org/0000-0001-8308-9781
ORCID for Jon C. Strefford: ORCID iD orcid.org/0000-0002-0972-2881

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Date deposited: 15 Apr 2013 09:19
Last modified: 31 Jul 2019 00:43

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Contributors

Author: Anne Gardiner
Author: Helen Parker ORCID iD
Author: Sharron Glide
Author: Sarah Mould
Author: Hazel M. Robinson
Author: Ian Tracy
Author: Tanja Stankovic
Author: David G. Oscier

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