Cystic apocrine ductal carcinoma in situ with increased EGFR expression, trisomy 7, and associated focal invasion.

A 71-year-old woman was admitted to our hospital with a lump in her right breast. Mammography revealed an internal high-density mass in the lower right breast, which was larger than it was 2 years ago. Considering the findings from ultrasonography, computed tomography, and cytology, an intracystic carcinoma could not be ruled out. The patient underwent excisional biopsy, which revealed an apocrine ductal carcinoma in situ (ADCIS) with focal invasive apocrine carcinoma (IAC). The diagnosis was based on morphology and immunohistochemistry (IHC), which was negative for the estrogen and progesterone receptors, and positive for the androgen receptor. Expression of the human epidermal growth factor receptor 2 and the epidermal growth factor receptor (EGFR) received an immunohistochemical score of 2+. Trisomy of chromosome 7, including multiple CEP 7 and EGFR signals, was observed in ADCIS by fluorescence in situ hybridization (FISH). IAC exhibited similar results for IHC and FISH. This is the first reported case showing trisomy 7 resulting in EGFR copy number gain and increased EGFR expression in ADCIS.