ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous

Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number...

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Autores principales: Moelans, Cathy B., Holst, Frederik, Hellwinkel, Olaf, Simon, Ronald, van Diest, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867473/
https://www.ncbi.nlm.nih.gov/pubmed/24367641
http://dx.doi.org/10.1371/journal.pone.0084189
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author Moelans, Cathy B.
Holst, Frederik
Hellwinkel, Olaf
Simon, Ronald
van Diest, Paul J.
author_facet Moelans, Cathy B.
Holst, Frederik
Hellwinkel, Olaf
Simon, Ronald
van Diest, Paul J.
author_sort Moelans, Cathy B.
collection PubMed
description Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number status combining an improved RNase FISH protocol with multiplex ligation-dependent probe amplification (MLPA) after laser microdissection. FISH showed a high prevalence of ESR1 gains and amplifications despite RNase treatment but MLPA did not confirm ESR1 copy number increases detected by FISH in more than half of cases. We suggest that the combination of the ESR1-specific intra-tumor heterogeneity and low-level copy number increase accounts for these discrepancies.
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spelling pubmed-38674732013-12-23 ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous Moelans, Cathy B. Holst, Frederik Hellwinkel, Olaf Simon, Ronald van Diest, Paul J. PLoS One Research Article Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number status combining an improved RNase FISH protocol with multiplex ligation-dependent probe amplification (MLPA) after laser microdissection. FISH showed a high prevalence of ESR1 gains and amplifications despite RNase treatment but MLPA did not confirm ESR1 copy number increases detected by FISH in more than half of cases. We suggest that the combination of the ESR1-specific intra-tumor heterogeneity and low-level copy number increase accounts for these discrepancies. Public Library of Science 2013-12-18 /pmc/articles/PMC3867473/ /pubmed/24367641 http://dx.doi.org/10.1371/journal.pone.0084189 Text en © 2013 Moelans et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Moelans, Cathy B.
Holst, Frederik
Hellwinkel, Olaf
Simon, Ronald
van Diest, Paul J.
ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title_full ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title_fullStr ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title_full_unstemmed ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title_short ESR1 Amplification in Breast Cancer by Optimized RNase FISH: Frequent but Low-Level and Heterogeneous
title_sort esr1 amplification in breast cancer by optimized rnase fish: frequent but low-level and heterogeneous
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867473/
https://www.ncbi.nlm.nih.gov/pubmed/24367641
http://dx.doi.org/10.1371/journal.pone.0084189
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