A.M. Rywlin, MD Department of Pathology, Mount Sinai Medical Center, Miami Beach, FL 33140, United States.
Florida International University, Herbert Wertheim College of Medicine, Miami, FL 33199, United States.
Cancer Treat Res Commun. 2020;25:100238. doi: 10.1016/j.ctarc.2020.100238. Epub 2020 Nov 26.
Squamous cell carcinomas (SqCCs) are the most common solid tumors in humans and are found across multiple organ systems. Although, integrated analysis of genetic alterations divulge similarities between SqCCs from various body sites, certain genes appear to be more frequently mutated in a given SqCC. These subtle differences may hold the key to determining the differentiation characteristics and predicting aggressiveness of tumors.
Fifty-four cases of SqCCs, in which the primary location of the tumor could be ascertained by clinical and radiological findings, were included in this study. Next generation sequencing data was analyzed for recurrent genetic abnormalities.
Genetic alterations were found in 219 genes in the 54 cases studied. TP53 mutations were found to be more frequent in pulmonary SqCCs (86.5%) as compared to non-pulmonary SqCCs (58.8%) (p<0.05). NOTCH gene family mutations and CREBBP mutations were limited to non-pulmonary SqCC (p<0.005) and were mutated in 41.2% and 17.6% cases.
A detailed comparative analysis of the genetic alterations identified by sequencing identified higher frequency of TP53 mutations in lung SqCCs as compared to non-pulmonary SqCCs. NOTCH and CREBPP mutations were found to be absent in lung and head and neck SqCCs and more frequent in SqCCs from other locations.
鳞状细胞癌（SqCCs）是人类最常见的实体肿瘤，存在于多个器官系统中。尽管对遗传改变的综合分析揭示了来自不同身体部位的 SqCC 之间的相似性，但某些基因似乎在特定的 SqCC 中更频繁地发生突变。这些细微的差异可能是确定肿瘤分化特征和预测侵袭性的关键。
本研究纳入了 54 例可通过临床和影像学发现确定肿瘤原发部位的 SqCC 病例。对下一代测序数据进行了分析，以寻找反复出现的遗传异常。
在 54 例研究病例中发现了 219 个基因的遗传改变。与非肺部 SqCC（58.8%）相比，肺部 SqCC 中发现 TP53 突变更为频繁（86.5%）（p<0.05）。NOTCH 基因家族突变和 CREBBP 突变仅限于非肺部 SqCC（p<0.005），突变率分别为 41.2%和 17.6%。
通过测序鉴定的遗传改变的详细比较分析表明，与非肺部 SqCC 相比，肺部 SqCC 中 TP53 突变的频率更高。NOTCH 和 CREBPP 突变在肺部和头颈部 SqCC 中不存在，而在其他部位的 SqCC 中更为常见。
