PDF(Pubmed)
Abstract：
BACKGROUND: Male secretory breast cancer is a rare, low-grade carcinoma, especially in boys. Due to its rarity, not much is known about this disease.
METHODS: A 5-year-old boy presented with a 1.4 cm painless mass in the right breast.
METHODS: 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.
METHODS: 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.
RESULTS: The patient was still free from local recurrence or metastases at 6-month follow-up.
CONCLUSIONS: 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.
METHODS: A 5-year-old boy presented with a 1.4 cm painless mass in the right breast.
METHODS: 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.
METHODS: 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.
RESULTS: The patient was still free from local recurrence or metastases at 6-month follow-up.
CONCLUSIONS: 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.
摘要：
背景：男性分泌型乳腺癌是一种罕见的乳腺癌，低度癌,尤其是男孩。由于它的稀有性,对这种疾病知之甚少。
方法：一个5岁男孩，右乳房有一个1.4厘米的无痛肿块。
方法：超声无法区分乳腺肿瘤是良性还是恶性。在对肿块切除标本进行活检后，被诊断为分泌性乳腺癌。
方法：患者接受了右乳改良根治术。术后未进行化疗或放疗。检测到211个癌症相关基因的下一代测序，结果显示ETV6-NTRK3易位和PDGFRBc.26322A>G突变。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）已被鉴定。
结果：随访6个月，患者仍无局部复发或转移。
结论：男性儿童SCB的基因组图谱相对简单，除了ETV6-NTRK3融合基因外，没有发现其他已知的驱动基因。我们的报告将提高我们对分泌性乳腺癌的认识。
方法：一个5岁男孩，右乳房有一个1.4厘米的无痛肿块。
方法：超声无法区分乳腺肿瘤是良性还是恶性。在对肿块切除标本进行活检后，被诊断为分泌性乳腺癌。
方法：患者接受了右乳改良根治术。术后未进行化疗或放疗。检测到211个癌症相关基因的下一代测序，结果显示ETV6-NTRK3易位和PDGFRBc.26322A>G突变。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）已被鉴定。
结果：随访6个月，患者仍无局部复发或转移。
结论：男性儿童SCB的基因组图谱相对简单，除了ETV6-NTRK3融合基因外，没有发现其他已知的驱动基因。我们的报告将提高我们对分泌性乳腺癌的认识。
