Objective: Epithelial-mesenchymal transition (EMT) contributes to cancer metastasis and recurrence, which are major obstacles in changing the course of cancer. However, studies on the mutational and gene expression profiles of epidermal growth factor-like repeats and discoidin I-like domains 3 (EDIL3) that reveal the relationship between clear cell renal cell carcinoma (ccRCC) and EMT markers are limited. The aim of our study was to reveal the correlation between tumor and EMT markers (E-cadherin and vimentin) and EDIL3 expression. Additionally, we evaluated target gene expression levels and mutational profiles in kidney cancer tissue and normal tissue.
Materials and Methods: We investigated the mutational profile and mRNA expression of EDIL3 and compared them with that of VIM and CDH1 in 523 patients with ccRCC using validated bioinformatics analysis. Additionally, Polymorphism Phenotyping v2 (PolyPhen-2), Screening for NonAcceptable Polymorphisms (SNAP) were used to predict and confirm the pathogenicity of the mutations detected. Studies were performed in silico using bioinformatics tools.
Results: EDIL3 and VIM expression was statistically significantly higher in the healthy group and exhibited a positive correlation in patients with ccRCC. Patients with elevated VIM and CDH1 expression and low EDIL3 expression had prolonged survival time. In addition, 7 mutations were detected in the evaluated genes, 6 of which had potential pathogenic features.
Conclusion: Our study provides insights for further experimental studies. EDIL3 can be used as a diagnostic or prognostic indicator of cancer development to help cure renal clear cell cancer.