Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature
Secretory breast cancer (SBC) is one of the rarest breast cancer (BC), representing the majority of BC in childhood. Nevertheless, it elicits a lot of interest both for the peculiar morphology and the characteristic genetic features. Currently, there is no consensus on optimal treatment strategy. Therefore, it is useful to report every case in order to establish treatment algorithms.
We describe the case of a 6-year-old boy diagnosed with a SBC, with peculiar genomic and immunohistochemical features. Moreover, we carried out a review of the literature in order to analyze the present state of knowledge about this rare entity.
To the best of our knowledge, there are only 120 cases published in literature, only 32 in males and only 2 younger than 6 years. Furthermore, this one had peculiar genomic and immunohistochemical features. Indeed, even if SBC expresses basal-cell markers, our patient had a triple-negative tumor expressing both basal and luminal cell markers. Furthermore, the boy’s genomic profile revealed not only positivity for the typical SBC’s translocation t(12;15), but also for a 3q28 duplication, found in his father (healthy) and paternal grandfather (with a previous BC). None were positive for BRCA mutation. This locus includes only one gene encoding for a growth factor recently linked to Early Infantile Epileptic Encephalopathy-47 and Idiopathic ventricular tachycardia. Even if the literature does not provide evidence of a pathogenic role it is not possible to exclude a cancer-predisposing activity.
SBC is a rare type of BC, characterized by triple-negative features with an unexpectedly good prognosis. More data are needed to fully understand the behavior of this cancer and genomic profiling could be helpful in improving its diagnosis and management.
KeywordsSecretory carcinoma Breast cancer Juvenile breast cancer ETV6–NTRK3 fusion gene Basal marker Male breast cancer Triple-negative breast carcinoma Breast carcinoma in children
Secretory breast cancer
World Health Organization
Ras–mitogen-activated protein kinase
Phosphatidyl inositol-3 kinase
Epidermal growth factor receptor
Invasive ductal carcinoma
Periodic acid Schiff
Epithelial membrane antigen
Sentinel lymph node biopsy
Hereditary breast and ovarian cancer
Fibroblast growth factor
Survival, epidemiology, and end result
National Cancer Data Base
Ductal carcinoma in situ
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent was obtained from the parents of the boy whose case is reported in this article.
- 14.Roychowdhury M (2018) Secretory carcinoma. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/breastmalignantjuvenile.html. Accessed 14 Mar 2018
- 19.Zhou X (2013) Secretory breast carcinoma in a 10 years old boy. Global J Breast Cancer Res 1:24–27Google Scholar
- 65.Chowdhury AR, Hossen M, Hussain QM et al (2017) Rare variety of breast cancer in a young girl: a case report. J Case Rep Images Oncol 3:25–28Google Scholar
- 67.Li N, Huang M, Yang Y et al (2017) Secretory breast cancer in a 7-year-old girl. Int J Clin Exp Pathol 10(5):6006–6010Google Scholar
- 73.Yildrim E, Turhan N, Pak I et al (1999) Secretory breast carcinoma in a boy. Eur J Surg Oncol 25(1):98–99Google Scholar