Data_Sheet_1_Genomic landscape and gene expression profiles of feline oral squamous cell carcinoma.xlsx

Feline oral squamous cell carcinoma (FOSCC) is a cancer of the squamous cell lining in the oral cavity and represents up to 80% of all oral cancers in cats, with a poor prognosis. We have used whole exome sequencing (WES) and RNA sequencing of the tumor to discover somatic mutations and gene expression changes that may be associated with FOSCC occurrence. FOSCC offers a potential comparative model to study human head and neck squamous cell carcinoma (HNSCC) due to its similar spontaneous formation, and morphological and histological features. In this first study using WES to identify somatic mutations in feline cancer, we have identified tumor-associated gene mutations in six cats with FOSCC and found some overlap with identified recurrently mutated genes observed in HNSCC. Four samples each had mutations in TP53, a common mutation in all cancers, but each was unique. Mutations in other cellular growth control genes were also found such as KAT2B and ARID1A. Enrichment analysis of FOSCC gene expression profiles suggests a molecular similarity to human OSCC as well, including alterations in epithelial to mesenchymal transition and IL6/JAK/STAT pathways. In this preliminary study, we present exome and transcriptome results that further our understanding of FOSCC.

猫口腔鳞状细胞癌（Feline oral squamous cell carcinoma, FOSCC）是一类发生于口腔鳞状上皮的恶性肿瘤，约占猫所有口腔恶性肿瘤的80%，预后极差。本研究通过对肿瘤样本开展全外显子组测序（whole exome sequencing, WES）与RNA测序，旨在挖掘与FOSCC发生相关的体细胞突变及基因表达改变。鉴于FOSCC的自发形成特性、形态学与组织学特征与人头颈部鳞状细胞癌（Human head and neck squamous cell carcinoma, HNSCC）高度相似，其可作为研究HNSCC的潜在比较模型。在这项首次利用WES鉴定猫类肿瘤体细胞突变的研究中，我们对6例FOSCC患猫的肿瘤相关基因突变进行了鉴定，并发现其与HNSCC中已报道的频发突变基因存在部分重叠。4例样本均携带TP53基因突变——该基因在各类肿瘤中均为常见突变靶点，但各样本的突变位点互不相同。此外，我们还在KAT2B、ARID1A等细胞生长调控基因中检测到突变。对FOSCC基因表达谱的富集分析显示，其分子特征与人类口腔鳞状细胞癌亦存在相似性，包括上皮间质转化及IL6/JAK/STAT信号通路的异常调控。本初步研究呈现了外显子组与转录组测序结果，为深化我们对FOSCC的认知提供了重要支撑。