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Article: Diagnostic utility of dual fusion PML/RARalpha translocation DNA probe (D-FISH) in acute promyelocytic leukemia.

TitleDiagnostic utility of dual fusion PML/RARalpha translocation DNA probe (D-FISH) in acute promyelocytic leukemia.
Authors
Issue Date2007
PublisherDemetrios A Spandidos Ed & Pub. The Journal's web site is located at http://147.52.72.117/OR/or.htm
Citation
Oncology Reports, 2007, v. 17 n. 4, p. 799-805 How to Cite?
AbstractTranslocation(15;17) leading to the formation of fusion gene PML/RARalpha is the diagnostic hallmark of acute promyelocytic leukemia (APL). Interphase fluorescence in situ hybridization (FISH) is one of the diagnostic tools employed for the detection of PML/RARalpha rearrangement. Using a dual color dual fusion (D-FISH) PML/RARalpha translocation DNA probe which hybridises both to PML/RARalpha and RARalpha/PML fusion genes, we characterised the FISH pattern of 52 APL patients at diagnosis and correlated the findings with conventional cytogenetics and RT-PCR analysis. The diagnostic sensitivity of the probe for PML/RARalpha was 100%. Seven patients had atypical D-FISH patterns; two had a masked PML/RARalpha fusion signal caused by the insertion of PML into RARalpha on 17q; 3 had an extra copy of PML/RARalpha in the form of isochromosome der(17)(q10)t(15;17) and one had duplication of the normal RARalpha gene with an ider(17q) masquerading as i(17)(q10). There was also one case of t(7;17;15) with a typical D-FISH pattern and in which metaphase FISH suggested an unusual 4-point break. In summary, PML/RARalpha D-FISH is a highly sensitive method for confirming diagnosis of APL. However D-FISH cannot be solely relied on for the diagnosis of APL owing to atypical patterns which are infrequently observed in cases with additional 17q structural abnormalities, gene insertion and gene duplication.
Persistent Identifierhttp://hdl.handle.net/10722/148512
ISSN
2015 Impact Factor: 2.486
2015 SCImago Journal Rankings: 0.968
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWan, TSen_US
dc.contributor.authorSo, CCen_US
dc.contributor.authorHui, KCen_US
dc.contributor.authorYip, SFen_US
dc.contributor.authorMa, ESen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:13:24Z-
dc.date.available2012-05-29T06:13:24Z-
dc.date.issued2007en_US
dc.identifier.citationOncology Reports, 2007, v. 17 n. 4, p. 799-805en_US
dc.identifier.issn1021-335Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148512-
dc.description.abstractTranslocation(15;17) leading to the formation of fusion gene PML/RARalpha is the diagnostic hallmark of acute promyelocytic leukemia (APL). Interphase fluorescence in situ hybridization (FISH) is one of the diagnostic tools employed for the detection of PML/RARalpha rearrangement. Using a dual color dual fusion (D-FISH) PML/RARalpha translocation DNA probe which hybridises both to PML/RARalpha and RARalpha/PML fusion genes, we characterised the FISH pattern of 52 APL patients at diagnosis and correlated the findings with conventional cytogenetics and RT-PCR analysis. The diagnostic sensitivity of the probe for PML/RARalpha was 100%. Seven patients had atypical D-FISH patterns; two had a masked PML/RARalpha fusion signal caused by the insertion of PML into RARalpha on 17q; 3 had an extra copy of PML/RARalpha in the form of isochromosome der(17)(q10)t(15;17) and one had duplication of the normal RARalpha gene with an ider(17q) masquerading as i(17)(q10). There was also one case of t(7;17;15) with a typical D-FISH pattern and in which metaphase FISH suggested an unusual 4-point break. In summary, PML/RARalpha D-FISH is a highly sensitive method for confirming diagnosis of APL. However D-FISH cannot be solely relied on for the diagnosis of APL owing to atypical patterns which are infrequently observed in cases with additional 17q structural abnormalities, gene insertion and gene duplication.en_US
dc.languageengen_US
dc.publisherDemetrios A Spandidos Ed & Pub. The Journal's web site is located at http://147.52.72.117/OR/or.htmen_US
dc.relation.ispartofOncology reportsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshChilden_US
dc.subject.meshDna Probes - Chemistryen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescence - Methodsen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshLeukemia, Promyelocytic, Acute - Diagnosisen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshOncogene Proteins, Fusion - Geneticsen_US
dc.subject.meshSensitivity And Specificityen_US
dc.subject.meshTranslocation, Geneticen_US
dc.titleDiagnostic utility of dual fusion PML/RARalpha translocation DNA probe (D-FISH) in acute promyelocytic leukemia.en_US
dc.typeArticleen_US
dc.identifier.emailSo, CC:scc@pathology.hku.hken_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authoritySo, CC=rp00391en_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid17342318-
dc.identifier.scopuseid_2-s2.0-34249948278en_US
dc.identifier.hkuros131127-
dc.identifier.volume17en_US
dc.identifier.issue4en_US
dc.identifier.spage799en_US
dc.identifier.epage805en_US
dc.identifier.isiWOS:000244966400015-
dc.publisher.placeGreeceen_US

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