Department of Oncology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province, PR China.
Medicine (Baltimore). 2023 Jul 7;102(27):e34192. doi: 10.1097/MD.0000000000034192.
Male secretory breast cancer is a rare, low-grade carcinoma, especially in boys. Due to its rarity, not much is known about this disease.
A 5-year-old boy presented with a 1.4 cm painless mass in the right breast.
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.
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.
The patient was still free from local recurrence or metastases at 6-month follow-up.
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.
男性分泌性乳腺癌是一种罕见的低级别癌，尤其在男孩中更为罕见。由于其罕见性，目前对这种疾病的了解并不多。
一名 5 岁男孩因右侧乳房出现 1.4cm 无痛性肿块就诊。
超声检查无法区分乳腺肿瘤是良性还是恶性。在进行肿块切除术的活检后，诊断为分泌性乳腺癌。
患儿接受了右侧乳房改良根治性切除术。未行术后化疗或放疗。对 211 个与癌症相关的基因进行了下一代测序，结果显示存在 ETV6-NTRK3 易位和 PDGFRB c.2632A>G 突变。未发现男性侵袭性乳腺癌中最常见的改变分子（如 BRCA1-2、TP53、RAD51C 和 RAD51D 突变）。
患者在 6 个月随访时仍未出现局部复发或转移。
男性小儿分泌性乳腺癌的基因组谱相对简单，除 ETV6-NTRK3 融合外，尚未发现其他已知的驱动基因。我们的报告将提高对分泌性乳腺癌的认识。
