摘要： 目的 通过对TCGA和GEO数据库中口腔鳞状细胞癌（OSCC）的数据挖掘，探讨FOXD1基因的表达及临床意义。方法 从TCGA和GEO数据库中提取FOXD1在OSCC组织及正常组织的表达信息，分析FOXD1表达与临床特征的关系及预后相关性。采用ESTIMATE和CIBERSORt算法，评估FOXD1高表达组和低表达组肿瘤微环境中基质评分、免疫评分和免疫细胞浸润水平的差异。利用基因集富集分析（GSEA）预测FOXD1相关的生物学功能和信号通路。结果 TCGA和GEO数据集分析发现FOXD1表达在OSCC组织中显著上调（P < 0.001）。FOXD1表达与与不良预后相关（P < 0.05）。FOXD1表达变化影响肿瘤微环境中M1型巨噬细胞，未活化树突状细胞、活化肥大细胞和滤泡辅助性T细胞的水平。结论 FOXD1在OSCC中呈高表达，且与不良预后相关，FOXD1基因可能是原癌基因，因此可作为OSCC诊断和治疗的潜在靶点。

基于TCGA和GEO数据库分析FOXD1在口腔鳞状细胞癌中的表达和临床意义

黄俊杰, 梁彬

中国医科大学生命科学学院生物信息学教研室, 沈阳 110122

收稿日期:2021-01-15出版日期:2021-11-30发布日期:2021-11-04
通讯作者:梁彬E-mail:bliang@cmu.edu.cn
作者简介:黄俊杰(1994-),男,硕士研究生.
基金资助:国家自然科学基金（81301835）


关键词: 口腔鳞状细胞癌, FOXD1基因, 生物信息, 肿瘤微环境, 预后
Abstract: Objective The aim of this study was to evaluate the clinical significance of FOXD1 expression in oral squamous cell carcinoma (OSCC) samples curated by the cancer genome atlas (TCGA) and gene expression omnibus (GEO) databases. Methods Sequencing data and clinical information were downloaded from the TCGA and GEO databases. Correlations between FOXD1 expression and clinical parameters and prognosis were evaluated. Stromal scores, immune scores, and immune cell infiltration were compared between high FOXD1 expression and low FOXD1 expression groups using ESTIMATE and CIBERSORT algorithms. The GSEA online tool was adopted to predict FOXD1-related biological functions and signaling pathways. Results FOXD1 expression was significantly up-regulated in OSCC samples in TCGA and GEO datasets (P < 0.001). FOXD1 expression correlated significantly with poor prognosis (P < 0.05). FOXD1 expression affected prevalence of immune infiltrating cells, including M1 macrophages, resting dendritic cells, activated mast cells, and follicular helper T cells. Conclusion FOXD1 was up-regulated in OSCC, and was an independent prognostic marker of OSCC. FOXD1, may act as an oncogene in the progression of OSCC.
Key words: oral squamous cell carcinoma, FOXD1 gene, bioinformatics, tumor microenvironment, prognosis
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