PMID- 29802469 OWN - NLM STAT- MEDLINE DCOM- 20180803 LR - 20181114 IS - 1432-2307 (Electronic) IS - 0945-6317 (Linking) VI - 473 IP - 2 DP - 2018 Aug TI - X chromosome gain is related to increased androgen receptor expression in male breast cancer. PG - 155-163 LID - 10.1007/s00428-018-2377-2 [doi] AB - X chromosome gain has been previously described in male breast cancer (MBC). Androgen receptor (AR) gene is located on X chromosome. The aim of this study was to investigate the role of the X chromosome gain in the development of MBC and its relation with AR gene copy number and expression.The X chromosome status was assessed in 66 cases of male invasive and in situ duct breast carcinoma, in 34 cases of gynecomastia associated with cancer, and in 11 cases of tumor-free gynecomastia. Cases were tested by fluorescence in situ hybridization (FISH) to assess the X chromosome status and AR amplification. AR expression was studied by immunohistochemistry (IHC). In addition, AR methylation status was assessed.X chromosome gain was observed in 74.7% of invasive duct carcinoma, in 20.6% of in situ duct carcinoma, and in 14.6% of gynecomastia when associated with cancer, while all cases of tumor-free gynecomastia showed wild X chromosome asset. AR gene copy number when increased paralleled the number of X chromosomes. AR IHC expression was observed in 100% of MBC tested. AR gene methylation status revealed low level or absence of methylation.These data suggest that X chromosome can play a role in the neoplastic transformation of male breast epithelium. X chromosome gain is paralleled by AR gene polysomy. Polysomic AR genes show low methylation levels and high AR protein expression on IHC. These data should be taken into consideration for MBC treatment planning. FAU - Di Oto, Enrico AU - Di Oto E AD - Department of Biomedical and Neuromotor Sciences, University of Bologna, Unit of Anatomic Pathology "M. Malpighi", Bellaria Hospital, Via Altura, 3, 40139, Bologna, Italy. FAU - Biserni, Giovanni B AU - Biserni GB AD - Department of Biomedical and Neuromotor Sciences, University of Bologna, Unit of Anatomic Pathology "M. Malpighi", Bellaria Hospital, Via Altura, 3, 40139, Bologna, Italy. FAU - Varga, Zsuzsanna AU - Varga Z AD - Institute of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland. FAU - Morandi, Luca AU - Morandi L AD - Department of Biomedical and Neuromotor Sciences, University of Bologna, Unit of Anatomic Pathology "M. Malpighi", Bellaria Hospital, Via Altura, 3, 40139, Bologna, Italy. FAU - Cucchi, Maria C AU - Cucchi MC AD - Unit of Breast Surgery, Department of Oncology, AUSL Bologna, Bellaria Hospital, Bologna, Italy. FAU - Masetti, Riccardo AU - Masetti R AD - Multidisciplinary Breast Center, Catholic University of Rome, Rome, Italy. FAU - Foschini, Maria P AU - Foschini MP AD - Department of Biomedical and Neuromotor Sciences, University of Bologna, Unit of Anatomic Pathology "M. Malpighi", Bellaria Hospital, Via Altura, 3, 40139, Bologna, Italy. mariapia.foschini@unibo.it. LA - eng GR - Fundamentally Oriented Funds for Research - RFO/Universita di Bologna/ PT - Journal Article DEP - 20180525 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 RN - 0 (AR protein, human) RN - 0 (Receptors, Androgen) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Breast Neoplasms, Male/*genetics/metabolism MH - Carcinoma, Ductal, Breast/*genetics/metabolism MH - Chromosomes, Human, X/genetics MH - Gene Amplification MH - Genes, X-Linked/*genetics MH - Humans MH - Male MH - Middle Aged MH - Receptors, Androgen/biosynthesis/*genetics MH - *Sex Chromosome Aberrations OTO - NOTNLM OT - Androgen receptor OT - FISH OT - Genetic marker OT - Invasive ductal carcinoma OT - Male breast cancer OT - X chromosome EDAT- 2018/05/29 06:00 MHDA- 2018/08/04 06:00 CRDT- 2018/05/27 06:00 PHST- 2018/01/22 00:00 [received] PHST- 2018/05/11 00:00 [accepted] PHST- 2018/05/10 00:00 [revised] PHST- 2018/05/29 06:00 [pubmed] PHST- 2018/08/04 06:00 [medline] PHST- 2018/05/27 06:00 [entrez] AID - 10.1007/s00428-018-2377-2 [pii] AID - 10.1007/s00428-018-2377-2 [doi] PST - ppublish SO - Virchows Arch. 2018 Aug;473(2):155-163. doi: 10.1007/s00428-018-2377-2. Epub 2018 May 25.