Immunohistochemical and molecular profiling of histologically defined apocrine carcinomas of the breast

Semir Vranic, Caterina Marchiò, Isabella Castellano, Cristina Botta, Maria Stella Scalzo, Ryan P. Bender, Cesar Payan-Gomez, Ludovica Verdun Di Cantogno, Patrizia Gugliotta, Fabrizio Tondat, Paola Francia Di Celle, Sara Mariani, Zoran Gatalica, Anna Sapino

Research output: Contribution to journalArticle

Abstract

Summary Despite the marked improvement in the understanding of molecular mechanisms and classification of apocrine carcinoma, little is known about its specific molecular genetic alterations and potentially targetable biomarkers. In this study, we explored immunohistochemical and molecular genetic characteristics of 37 invasive apocrine carcinomas using immunohistochemistry (IHC), fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and next-generation sequencing (NGS) assays. IHC revealed frequent E-cadherin expression (89%), moderate (16%) proliferation activity [Ki-67, phosphohistone H3], infrequent (~10%) expression of basal cell markers [CK5/6, CK14, p63, caveolin-1], loss of PTEN (83%), and overexpression of HER2 (32%), EGFR (41%), cyclin D1 (50%), and MUC-1 (88%). MLPA assay revealed gene copy gains of MYC, CCND1, ZNF703, CDH1, and TRAF4 in 50% or greater of the apocrine carcinomas, whereas gene copy losses frequently affected BRCA2 (75%), ADAM9 (54%), and BRCA1 (46%). HER2 gain, detected by MLPA in 38% of the cases, was in excellent concordance with HER2 results obtained by IHC/FISH (κ = 0.915, P

Original languageEnglish
Pages (from-to)1350-1359
Number of pages10
JournalHuman Pathology
Volume46
Issue number9
DOIs
Publication statusPublished - Sep 1 2015

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Keywords

  • Androgen receptor
  • Breast carcinoma-apocrine carcinoma
  • Fluorescent in situ hybridization
  • Immunohistochemistry
  • Multiplex ligation-dependent probe amplification
  • Next-generation sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Vranic, S., Marchiò, C., Castellano, I., Botta, C., Scalzo, M. S., Bender, R. P., Payan-Gomez, C., Di Cantogno, L. V., Gugliotta, P., Tondat, F., Di Celle, P. F., Mariani, S., Gatalica, Z., & Sapino, A. (2015). Immunohistochemical and molecular profiling of histologically defined apocrine carcinomas of the breast. Human Pathology, 46(9), 1350-1359. https://doi.org/10.1016/j.humpath.2015.05.017