FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size

The diagnosis of acute promyelocytic leukaemia (APL) is usually confirmed by cytogenetics showing the characteristic t(15;17), but a minority of patients have a masked PML/RARA fusion. We report ten patients with APL and no evidence of the t(15;17), in whom the insertion of RARA into PML could not b...

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Autores principales: Campbell, Lynda J., Oei, Paul, Brookwell, Ross, Shortt, Jake, Eaddy, Nicola, Ng, Ashley, Chew, Edward, Browett, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625549/
https://www.ncbi.nlm.nih.gov/pubmed/23607089
http://dx.doi.org/10.1155/2013/164501
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author Campbell, Lynda J.
Oei, Paul
Brookwell, Ross
Shortt, Jake
Eaddy, Nicola
Ng, Ashley
Chew, Edward
Browett, Peter
author_facet Campbell, Lynda J.
Oei, Paul
Brookwell, Ross
Shortt, Jake
Eaddy, Nicola
Ng, Ashley
Chew, Edward
Browett, Peter
author_sort Campbell, Lynda J.
collection PubMed
description The diagnosis of acute promyelocytic leukaemia (APL) is usually confirmed by cytogenetics showing the characteristic t(15;17), but a minority of patients have a masked PML/RARA fusion. We report ten patients with APL and no evidence of the t(15;17), in whom the insertion of RARA into PML could not be demonstrated by initial FISH studies using a standard dual fusion probe but was readily identified using smaller probes. Given the need for rapid diagnosis of APL, it is important to be aware of the false negative rate for large PML/RARA FISH probes in the setting of masked rearrangements.
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spelling pubmed-36255492013-04-19 FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size Campbell, Lynda J. Oei, Paul Brookwell, Ross Shortt, Jake Eaddy, Nicola Ng, Ashley Chew, Edward Browett, Peter Biomed Res Int Research Article The diagnosis of acute promyelocytic leukaemia (APL) is usually confirmed by cytogenetics showing the characteristic t(15;17), but a minority of patients have a masked PML/RARA fusion. We report ten patients with APL and no evidence of the t(15;17), in whom the insertion of RARA into PML could not be demonstrated by initial FISH studies using a standard dual fusion probe but was readily identified using smaller probes. Given the need for rapid diagnosis of APL, it is important to be aware of the false negative rate for large PML/RARA FISH probes in the setting of masked rearrangements. Hindawi Publishing Corporation 2013 2013-03-28 /pmc/articles/PMC3625549/ /pubmed/23607089 http://dx.doi.org/10.1155/2013/164501 Text en Copyright © 2013 Lynda J. Campbell et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Campbell, Lynda J.
Oei, Paul
Brookwell, Ross
Shortt, Jake
Eaddy, Nicola
Ng, Ashley
Chew, Edward
Browett, Peter
FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title_full FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title_fullStr FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title_full_unstemmed FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title_short FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size
title_sort fish detection of pml-rara fusion in ins(15;17) acute promyelocytic leukaemia depends on probe size
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625549/
https://www.ncbi.nlm.nih.gov/pubmed/23607089
http://dx.doi.org/10.1155/2013/164501
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