Breast Cancer Research and Treatment

, Volume 170, Issue 3, pp 445–454 | Cite as

Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature

  • M. Ghilli
  • M. D. Mariniello
  • C. Scatena
  • l. Dosa
  • G. Traficante
  • A. Tamburini
  • C. Caporalini
  • A. M. Buccoliero
  • F. Facchini
  • L. Colizzi
  • A. Quattrini Li
  • E. Landucci
  • G. Manca
  • A. G. Naccarato
  • D. Caramella
  • C. Favre
  • M. Roncella



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.


Secretory 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


Breast cancer


World Health Organization


Ras–mitogen-activated protein kinase


Phosphatidyl inositol-3 kinase


Estrogen receptor


Progesteron receptor


Epidermal growth factor receptor


Invasive ductal carcinoma


Periodic acid Schiff


Epithelial membrane antigen


Multidisciplinary meeting


Sentinel lymph node biopsy




Hereditary breast and ovarian cancer


Fibroblast growth factor




Survival, epidemiology, and end result


National Cancer Data Base


Disease-free survival


Ductal carcinoma in situ


Non-special type


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the parents of the boy whose case is reported in this article.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • M. Ghilli
    • 1
  • M. D. Mariniello
    • 1
  • C. Scatena
    • 2
  • l. Dosa
    • 3
  • G. Traficante
    • 3
  • A. Tamburini
    • 5
  • C. Caporalini
    • 4
  • A. M. Buccoliero
    • 4
  • F. Facchini
    • 6
  • L. Colizzi
    • 1
  • A. Quattrini Li
    • 1
  • E. Landucci
    • 7
  • G. Manca
    • 8
  • A. G. Naccarato
    • 9
  • D. Caramella
    • 10
  • C. Favre
    • 5
  • M. Roncella
    • 11
  1. 1.Breast Surgery, Breast Cancer CenterUniversity HospitalPisaItaly
  2. 2.Pathology, Breast Cancer CenterUniversity HospitalPisaItaly
  3. 3.Medical GeneticsUniversity Hospital AOU MeyerFlorenceItaly
  4. 4.PathologyUniversity Hospital AOU MeyerFlorenceItaly
  5. 5.Department of Ematology and OncologyUniversity Hospital AOU MeyerFlorenceItaly
  6. 6.Plastic SurgeryUniversity Hospital AOU MeyerFlorenceItaly
  7. 7.Oncology, Breast Cancer CenterUniversity HospitalPisaItaly
  8. 8.Nuclear MedicineUniversity HospitalPisaItaly
  9. 9.Pathology UnitUniversity HospitalPisaItaly
  10. 10.Department of RadiologyUniversity HospitalPisaItaly
  11. 11.Breast Cancer CenterUniversity HospitalPisaItaly

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