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01-08-2021 | Breast Cancer | Original Article

Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast

Authors: Anna Cremonini, Luca Saragoni, Luca Morandi, Angelo G. Corradini, Caterina Ravaioli, Enrico Di Oto, Francesco Limarzi, Alejandro M. Sanchez, Maria C. Cucchi, Riccardo Masetti, Cecily Quinn, Maria P. Foschini

Published in: Virchows Archiv | Issue 2/2021

Abstract

Carcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen receptor (AR) which is a target molecule for personalised therapy. To date, no studies have evaluated the genetic changes that are associated with AR immunohistochemical expression in CADs. The present work aims to characterise AR status in CADs. Twenty CAD tumours were studied with immunohistochemistry, in situ fluorescence hybridization and DNA methylation analysis, to evaluate AR expression and its regulator status. All tumours demonstrated high AR immunohistochemical expression, with over 95% of the neoplastic cells showing AR positivity in 19/20 cases. CADs showed AR gene copy loss in a percentage of neoplastic cells ranging from 5 to 84% (mean 48.93%). AR regulator genes, including the MAGE family, UXT and FLNA, presented variable methylation levels, but were mainly hypomethylated and therefore all transcriptionally active. The results of this study indicate that CADs present AR monosomy, paralleled by higher transcriptional activity of the gene with potential to influence response to AR deprivation therapy.

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Title: Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast
Authors: Anna Cremonini
Luca Saragoni
Luca Morandi
Angelo G. Corradini
Caterina Ravaioli
Enrico Di Oto
Francesco Limarzi
Alejandro M. Sanchez
Maria C. Cucchi
Riccardo Masetti
Cecily Quinn
Maria P. Foschini
Publication date: 01-08-2021
Publisher: Springer Berlin Heidelberg
Keywords: Breast Cancer
Breast Cancer
Androgens
Published in: Virchows Archiv / Issue 2/2021
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-021-03028-2

At a glance: The STEP trials

Springer Medicine

Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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