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.
Cremonini A., Saragoni L., Morandi L., Corradini A.G., Ravaioli C., Di Oto E., et al. (2021). Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast. VIRCHOWS ARCHIV, 479(2), 345-354 [10.1007/s00428-021-03028-2].
Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast
Morandi L.Investigation
;Corradini A. G.Formal Analysis
;Di Oto E.Membro del Collaboration Group
;Limarzi F.;Masetti R.Funding Acquisition
;Quinn C.Supervision
;Foschini M. P.
Ultimo
Writing – Review & Editing
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.File | Dimensione | Formato | |
---|---|---|---|
Ca apocrino 2021.pdf
accesso aperto
Descrizione: pdf finale
Tipo:
Versione (PDF) editoriale
Licenza:
Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione
5.51 MB
Formato
Adobe PDF
|
5.51 MB | Adobe PDF | Visualizza/Apri |
428_2021_3028_MOESM1_ESM.docx
accesso aperto
Tipo:
File Supplementare
Licenza:
Licenza per accesso libero gratuito
Dimensione
18.35 kB
Formato
Microsoft Word XML
|
18.35 kB | Microsoft Word XML | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.