Febres-Aldana Christopher A, Mejia-Mejia Odille, Krishnamurthy Kritika, Mesko Thomas, Poppiti Robert
Arkadi M. Rywlin Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL, USA.
Section of Surgical Oncology, Mount Sinai Medical Center, Miami Beach, FL, USA.
J Breast Cancer. 2020 Feb;23(1):93-99. doi: 10.4048/jbc.2020.23.e2.
Breast adenomyoepitheliomas are composed of a biphasic proliferation of myoepithelial cells around small epithelial-lined spaces. Due to the rarity of adenomyoepitheliomas, the molecular data describing them are limited. Adenomyoepitheliomas are considered to be benign or have low malignant potential, and be prone to local recurrence. Malignant transformation has been associated with homozygous deletion of or somatic mutations in , but remains unexplained in many cases. Here, we describe a case of carcinomatous transformation of both epithelial and myoepithelial cells in an estrogen receptor-negative adenomyoepithelioma caused by amplification of . Break-apart fluorescence hybridization revealed an increase in the gene copy number (3-4 copies/cell in 37%, > 4 copies/cell in 40%). Deregulation of is responsible for uncontrolled proliferation and cellular immortalization in basal-like breast cancers. Our case demonstrates that genomic instability events associated with gene amplification may be involved in the carcinogenesis of malignant adenomyoepitheliomas.
乳腺腺肌上皮瘤由围绕小的内衬上皮的腔隙的肌上皮细胞双相增生构成。由于腺肌上皮瘤罕见，描述它们的分子数据有限。腺肌上皮瘤被认为是良性的或具有低恶性潜能，且易于局部复发。恶性转化与 的纯合缺失或体细胞突变有关，但在许多情况下仍无法解释。在此，我们描述了一例雌激素受体阴性的腺肌上皮瘤中上皮和肌上皮细胞均发生癌转化的病例，该转化由 的扩增引起。断裂荧光原位杂交显示 基因拷贝数增加（37%的细胞中为3 - 4个拷贝/细胞，40%的细胞中> 4个拷贝/细胞）。 的失调导致基底样乳腺癌中不受控制的增殖和细胞永生化。我们的病例表明，与基因扩增相关的基因组不稳定事件可能参与了恶性腺肌上皮瘤的致癌过程。
