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Komen Italy"},{"DOI":"10.13039\/501100005969","name":"Universit\u00e0 di Bologna","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005969","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>MAGE<\/jats:italic> family, <jats:italic>UXT<\/jats:italic> and <jats:italic>FLNA<\/jats:italic>, 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.<\/jats:p>","DOI":"10.1007\/s00428-021-03028-2","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T15:08:49Z","timestamp":1612364929000},"page":"345-354","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast"],"prefix":"10.1007","volume":"479","author":[{"given":"Anna","family":"Cremonini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2137-9596","authenticated-orcid":false,"given":"Luca","family":"Saragoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3810-9760","authenticated-orcid":false,"given":"Luca","family":"Morandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo G.","family":"Corradini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Ravaioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3330-6386","authenticated-orcid":false,"given":"Enrico","family":"Di Oto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1367-3525","authenticated-orcid":false,"given":"Francesco","family":"Limarzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4840-507X","authenticated-orcid":false,"given":"Alejandro M.","family":"Sanchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3197-7570","authenticated-orcid":false,"given":"Maria C.","family":"Cucchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7520-9111","authenticated-orcid":false,"given":"Riccardo","family":"Masetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8920-5480","authenticated-orcid":false,"given":"Cecily","family":"Quinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7079-7260","authenticated-orcid":false,"given":"Maria P.","family":"Foschini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,3]]},"reference":[{"key":"3028_CR1","volume-title":"WHO classification of tumours of the breast","author":"WHO Classification of Tumours Ed. 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EdO is the CEO\/CTO of OaCP IE LTD, Phoenix House, Monahan road, T12H1XY, Cork City, Cork, Ireland. CQ received speaker fees from Roche and Exact Sciences. The remaining authors declare that they have no conflict of interest related to the present work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was approved by the local Ethical Committee (Code: n. CE17133). Consent to participate is not applicable to the present work (retrospective study done on archival material).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The present paper does not contain data that can identify the single patients. Therefore, patient consent for publication is not needed. All the authors give the consent for paper publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Software application or custom code: not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}