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Updated: Jul 24, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Secretory breast cancer in a boy: A case report with genetic analysis using next-generation sequencing and literature
Lili Deng1, Yang Li, Jincai Zhong
1Department of Oncology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province, PR China.
Rationale:
Male secretory breast cancer is a rare, low-grade carcinoma, especially in boys. Due to its rarity, not much is known about this disease.
Patient Concerns:
A 5-year-old boy presented with a 1.4 cm painless mass in the right breast.
Diagnoses:
Ultrasonography could not distinguish whether the breast tumor was benign or malignant. After a biopsy of the lumpectomy specimen, it was diagnosed to be secretory breast carcinoma.
Interventions:
The patient underwent a modified radical mastectomy for his right breast. No postoperative chemotherapy or radiotherapy was performed. Next-generation sequencing of 211 cancer-related genes was detected, and the results revealed an ETV6-NTRK3 translocation and a PDGFRB c.2632A > G mutation. None of the most commonly altered molecules in male aggressive breast cancer (such as BRCA1-2, TP53, RAD51C, and RAD51D mutations) has been identified.
Outcomes:
The patient was still free from local recurrence or metastases at 6-month follow-up.
Lessons:
The genomic profile of male pediatric SCB is relatively simple, no other known driver genes have been found except for the ETV6-NTRK3 fusion. Our report will improve our understanding of secretory breast cancer.
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