Risk-Related Genes and Associated Signaling Pathways of Gastrointestinal Stromal Tumors

PURPOSE: Knowledge on the potential association between differential gene expression and risk of gastrointestinal stromal tumors (GISTs) is currently limited. We used bioinformatics tools to identify differentially expressed genes in GIST samples and the related signaling pathways of these genes. PATIENTS AND METHODS: The GSE136755 dataset was obtained from the GEO database and differentially expressed genes (CENPA, CDK1, TPX2, CCNB1, CCNA2, BUB1, AURKA, KIF11, NDC80) were screened using String and Cytoscape bioinformatics tools. Then, three groups of eight patients at high, intermediate and low risk of GIST were selected from patients diagnosed with GIST by immunohistochemistry in our hospital from October 2020 to March 2021. Differential expression of CDK1 and BUB1 was verified by comparing the amount of expressed p21-Activated kinase 4 (PAK4) protein in pathological sections. RESULTS: SPSS26.0 analysis showed that the expression level of PAK4 in GISTs was significantly higher than in normal tissues and paratumoral tissues and there was significant difference among the three groups of patients (P < 0.01). PAK4 levels in paratumoral and normal tissues were negligible with no significant difference between the tissues. CONCLUSION: CENPA, CDK1, TPX2, CCNB1, CCNA2, BUB1, AURKA, KIF11 and NDC80 gene expression can be used as biomarkers to assess the risk of gastrointestinal stromal tumors whereby expression increases gradually with the increased risk of GIST formation. The genes encode proteins that regulate the division, proliferation and apoptosis of gastrointestinal stromal tumors mainly through PI3K/AKT, MARK, P53, WNT and other signaling pathways.