The Departments of Breast Oncology, National Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1347, Japan.
The Department of Breast Surgery, New-wa-kai Oikawa Hospital, Fukuoka, Japan.
Breast Cancer. 2017 Nov;24(6):733-741. doi: 10.1007/s12282-017-0768-x. Epub 2017 Mar 18.
Squamous cell carcinoma (SCC) of the breast is a rare and generally aggressive disease that accounts for less than 0.1% of all breast carcinomas. Although SCCs have distinct morphological features, their origin and cytogenetic profile are not well understood.
Five patients with SCC were studied. The tumor area that was predominantly composed of SCC components was macrodissected and DNA was extracted. In three cases, an invasive or noninvasive ductal carcinoma of no special type (NST) component was also present. NST-component DNA was also extracted. The tumor DNA was used for array comparative genomic hybridization analysis using a high-density oligonucleotide microarray. The cytogenetic profile of the SCC components was compared with each other and with the paired NST component in three of the five cases.
The cytogenetic profile of the SCC components indicated large intertumoral heterogeneity. There were between 2 and 160 copy number alterations per case, and no common copy number alterations were identified. The cytogenetic profiles of the paired SCC and NST components were similar but not identical. Although, in one case, a larger number of copy number aberrant regions were detected in the SCC component than the NST component. In this case, all the NST component aberrations were present in the SCC component. This implies that the SCC component originated from the NST component. There were no common SCC component-specific aberrations in the three NST-component cases.
Our results demonstrate the cytogenetic inter- and intratumoral heterogeneity of SCC of the breast. Our comparison of cytogenetic profiles indicated that the SCC component originated from the NST component in one case.
乳腺鳞状细胞癌（SCC）是一种罕见且通常侵袭性很强的疾病，其在所有乳腺癌中的占比不到 0.1%。尽管 SCC 具有独特的形态学特征，但它们的起源和细胞遗传学特征尚未得到很好的理解。
研究了 5 例 SCC 患者。对主要由 SCC 成分组成的肿瘤区域进行了宏观解剖并提取了 DNA。在 3 例中，还存在浸润性或非浸润性非特殊型导管癌（NST）成分。也提取了 NST 成分的 DNA。使用高密度寡核苷酸微阵列对肿瘤 DNA 进行了阵列比较基因组杂交分析。在 5 例中的 3 例中，比较了 SCC 成分的细胞遗传学特征彼此之间以及与配对的 NST 成分之间的关系。
SCC 成分的细胞遗传学特征表明存在较大的肿瘤间异质性。每个病例中有 2 到 160 个拷贝数改变，没有共同的拷贝数改变被识别。配对的 SCC 和 NST 成分的细胞遗传学特征相似但不完全相同。虽然在 1 例中，SCC 成分中检测到的拷贝数异常区域数量多于 NST 成分，但 SCC 成分中存在所有 NST 成分的异常。这意味着 SCC 成分起源于 NST 成分。在 3 例 NST 成分病例中，没有共同的 SCC 成分特异性异常。
我们的结果表明乳腺 SCC 存在细胞遗传学的肿瘤间和肿瘤内异质性。我们对细胞遗传学特征的比较表明，在 1 例中 SCC 成分起源于 NST 成分。
