Department of Otolaryngology, Head and Neck Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
Department of Public Health, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.
Sci Rep. 2017 Jul 10;7(1):4963. doi: 10.1038/s41598-017-04954-5.
This study was designed to explore the relationship between epidermal growth factor receptor (EGFR) CA repeats polymorphism and protein expression in oral cavity squamous cell carcinoma (OSCC). A total of 194 OSCCs were examined for EGFR protein overexpression, gene copy number and the length of their CA repeats. The length of the EGFR CA repeats was found not to be associated with EGFR gene copy number or with protein overexpression. To exclude the effect of EGFR gene copy number on protein overexpression, only those OSCC tumors with disomy of the EGFR gene were included in further analysis. In this subgroup, EGFR protein overexpression was significantly associated with poor differentiation of the tumor cells and lymph node metastasis, especially extra-capsular spread. However, EGFR CA repeats were not related to any clinicopathological factor. Interestingly, patients genetically found to have the EGFR CA repeats SS genotype and having tumors with EGFR protein overexpression were found to have a worst prognosis in terms of disease-free survival (DFS) (HR = 2.68; 95% CI, 1.03-6.98) after multivariate adjustment. The present study demonstrates that concurrent overexpression of EGFR protein in the presence genetically of the SS form CA repeats acts as a predictor for poor DFS.
本研究旨在探讨表皮生长因子受体（EGFR）CA 重复多态性与口腔鳞状细胞癌（OSCC）中蛋白表达的关系。共检测了 194 例 OSCC 组织中 EGFR 蛋白过表达、基因拷贝数和 CA 重复长度。结果发现 EGFR CA 重复长度与 EGFR 基因拷贝数或蛋白过表达无关。为了排除 EGFR 基因拷贝数对蛋白过表达的影响，仅将 EGFR 基因二倍体的 OSCC 肿瘤纳入进一步分析。在这个亚组中，EGFR 蛋白过表达与肿瘤细胞的低分化和淋巴结转移，特别是包膜外扩散显著相关。然而，EGFR CA 重复与任何临床病理因素均无关。有趣的是，在多变量调整后，遗传上发现 EGFR CA 重复 SS 基因型且肿瘤 EGFR 蛋白过表达的患者在无病生存（DFS）方面的预后最差（HR=2.68；95%CI，1.03-6.98）。本研究表明，同时存在 EGFR 蛋白过表达和 SS 形式 CA 重复的遗传表型与较差的 DFS 相关。
