Breast Surgery, Breast Cancer Center, University Hospital, Pisa, Italy.
Pathology, Breast Cancer Center, University Hospital, Pisa, Italy.
Breast Cancer Res Treat. 2018 Aug;170(3):445-454. doi: 10.1007/s10549-018-4772-4. Epub 2018 Apr 3.
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.
分泌性乳腺癌（SBC）是最罕见的乳腺癌（BC）之一，占儿童期 BC 的大多数。尽管如此，由于其独特的形态和特征性的遗传特征，它引起了很多关注。目前，对于最佳治疗策略尚无共识。因此，报告每一个病例以建立治疗方案是很有用的。
我们描述了一例 6 岁男孩被诊断为 SBC 的病例，具有独特的基因组和免疫组织化学特征。此外，我们对文献进行了综述，以分析有关这种罕见实体的现有知识状况。
据我们所知，文献中仅发表了 120 例，男性仅 32 例，年龄小于 6 岁的仅 2 例。此外，这个病例具有独特的基因组和免疫组织化学特征。事实上，尽管 SBC 表达基底细胞标志物，但我们的患者是一种三阴性肿瘤，同时表达基底细胞和腔细胞标志物。此外，该男孩的基因组谱不仅显示出典型的 SBC 易位 t（12;15）的阳性，还显示出 3q28 重复，该重复存在于他的父亲（健康）和祖父（曾患有 BC）中。没有人对 BRCA 突变呈阳性。这个基因座只包含一个编码生长因子的基因，该基因最近与早发性婴儿癫痫性脑病-47 和特发性室性心动过速有关。尽管文献没有提供致病作用的证据，但不能排除其具有致癌活性的可能性。
SBC 是一种罕见的乳腺癌类型，其特征是三阴性特征，预后良好。需要更多的数据来全面了解这种癌症的行为，基因组分析可能有助于改善其诊断和管理。
