The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK.
Mod Pathol. 2010 Jul;23(7):951-60. doi: 10.1038/modpathol.2010.82. Epub 2010 May 7.
Breast adenosquamous carcinomas are rare tumours characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. A low-grade variant has been described that is associated with a better prognosis. Here we studied five cases of adenosquamous carcinomas to determine their genetic profiles and to investigate whether the spindle cell component of these cancers could at least in part stem from the glandular/epithelial components. Five adenosquamous carcinomas of the breast were subjected to (1) immunohistochemical analysis, (2) microdissection and genetic analysis with a high-resolution microarray comparative genomic hybridization platform, and (3) chromogenic in situ hybridization. All cases displayed a triple-negative immunophenotype, consistently expressed 'basal' keratins and showed variable levels of epidermal growth factor receptor expression. Microarray comparative genomic hybridization analysis of two of the cases revealed multiple low-level gains and losses affecting several chromosomal arms. Case 1 displayed gains of the whole of chromosome 7, and case 2 harboured a focal, high-level amplification of 7p12, encompassing the epidermal growth factor receptor gene, which was associated with strong and intense membranous epidermal growth factor receptor expression. Chromogenic in situ hybridization revealed that the genetic features found in the epithelial cells were also present in a minority of the spindle cells of the stromal component, in particular in those near the epithelial clusters, indicating that some of the spindle cells are clonal and derived from the epithelial component of the tumour. In conclusion, breast adenosquamous carcinomas are triple-negative cancers that express 'basal' keratins. These tumours harbour complex genetic profiles. Some of the spindle cells in adenosquamous carcinomas are derived from the epithelial component, suggesting that adenosquamous carcinomas may also be part of the group of metaplastic breast carcinomas with spindle cell metaplastic elements.
乳腺腺鳞癌是一种罕见的肿瘤，其特征为发育良好的腺体形成与密集混合的实体鳞状细胞巢，浸润在富含细胞的梭形细胞基质中。已描述了一种低级别变体，其与更好的预后相关。在此，我们研究了 5 例腺鳞癌，以确定其遗传特征，并研究这些癌症的梭形细胞成分是否至少部分源自腺体/上皮成分。对 5 例乳腺腺鳞癌进行了（1）免疫组织化学分析，（2）利用高分辨率微阵列比较基因组杂交平台进行微切割和遗传分析，以及（3）显色原位杂交。所有病例均表现出三阴性免疫表型，一致表达“基底”角蛋白，并显示表皮生长因子受体表达水平的变化。对其中 2 例病例的微阵列比较基因组杂交分析显示，多个染色体臂存在多个低水平增益和缺失。病例 1 显示整条 7 号染色体的增益，而病例 2则在 7p12 处存在局灶性、高水平的扩增，包含表皮生长因子受体基因，这与强烈和强烈的膜表皮生长因子受体表达相关。显色原位杂交显示，在肿瘤上皮细胞中发现的遗传特征也存在于基质成分中少数梭形细胞中，特别是在靠近上皮细胞簇的那些中，表明一些梭形细胞是克隆的，源自肿瘤的上皮成分。总之，乳腺腺鳞癌是三阴性癌症，表达“基底”角蛋白。这些肿瘤具有复杂的遗传特征。腺鳞癌中的一些梭形细胞源自上皮成分，这表明腺鳞癌也可能是具有梭形细胞化生成分的多形性乳腺癌的一部分。
