ESR1 amplification is rare in breast cancer and is associated with high grade and high proliferation: a multiplex ligation-dependent probe amplification studyReport as inadecuate

ESR1 amplification is rare in breast cancer and is associated with high grade and high proliferation: a multiplex ligation-dependent probe amplification study - Download this document for free, or read online. Document in PDF available to download.

Cellular Oncology

, Volume 34, Issue 5, pp 489–494

First Online: 04 May 2011Accepted: 06 April 2010DOI: 10.1007-s13402-011-0045-5

Cite this article as: Moelans, C.B., Monsuur, H.N., de Pinth, J.H. et al. Cell Oncol. 2011 34: 489. doi:10.1007-s13402-011-0045-5


BackgroundExpression of estrogen receptor alpha ERα is predictive for endocrine therapy response and an important prognostic factor in breast cancer. Overexpression of ERα can be caused by estrogen receptor 1 ESR1 gene amplification and was originally reported to be a frequent event associated with a significantly longer survival for ER-positive women treated with adjuvant tamoxifen monotherapy, which was however questioned by subsequent studies.

MethodsThis study aimed to reanalyze the frequency of ESR1 amplification by multiplex ligation-dependent probe amplification MLPA and fluorescence in situ hybridisation FISH, and to assess clinicopathologic correlations. MLPA was performed in a group of 135 breast cancer patients, and gains-amplifications were subjected to FISH.

ResultsTrue ESR1 amplification by MLPA was rare 2% and only 6% more patients showed a modest gain of ESR1. All MLPA-detected ESR1 amplifications and nearly all ESR1 gains were also FISH amplified and gained, but not all FISH amplifications-gains were MLPA amplified-gained, leading to an overall concordance of only 60% between both techniques. All 3 MLPA and FISH ESR1 amplified cases had high ERα expression, but there was no obvious correlation between ESR1 gain and ER status by IHC. ESR1 gains-amplifications were not associated with HER2 gain-amplification, but seemed to be associated with older age. Surprisingly, ESR1 gain-amplification was not associated with low grade as reported previously, but correlated with high grade and high proliferation. Furthermore, ESR1 gain-amplification by MLPA was not associated with nodal status or tumor size pT status.

ConclusionsESR1 amplification as detected by MLPA is rare in breast cancer, and seems to be associated with high ERα expression, high age, high grade and high proliferation. This study confirms previous studies that showed differences in the ESR1 amplification frequencies detected by different techniques.

KeywordsESR1 MLPA Breast cancer Amplification This paper is a reprint from ‘ESR1 Amplification is rare in Breast Cancer and is associated with high Grade and high Proliferation: a multiplex ligation-dependent probe amplification Study, Cathy B Moelans, Hanneke N Monsuur, Johannes H de Pinth, Remco D Radersma, Roel A de Weger and Paul J van Diest’ originally published in Analytical Cellular Pathology-Cellular Oncology, Volume 33, number1, 2010, pp. 13–18, IOS Press.

Electronic supplementary materialThe online version of this article doi:10.1007-s13402-011-0045-5 contains supplementary material, which is available to authorized users.

An erratum to this article can be found at

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Author: Cathy B. Moelans - Hanneke N. Monsuur - Johannes H. de Pinth - Remco D. Radersma - Roel A. de Weger - Paul J. van D


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