雄激素受体
免疫组织化学
单体
荧光原位杂交
生物
癌症研究
17号染色体(人)
DNA甲基化
顶泌
病理
基因表达
癌症
基因
医学
染色体
遗传学
前列腺癌
核型
作者
Anna Laura Cremonini,Luca Saragoni,Luca Morandi,Alessandra Corradini,Caterina Ravaioli,Enrico Di Oto,Francesco Limarzi,Alejandro Martín Sánchez,M.C. Cucchi,Riccardo Masetti,Cecily Quinn,Maria Pia Foschini
出处
期刊:Virchows Archiv
[Springer Nature]
日期:2021-02-03
卷期号:479 (2): 345-354
被引量:3
标识
DOI:10.1007/s00428-021-03028-2
摘要
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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