Abstract: Background and purpose: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal of the gastrointestinal tract. Since the concept of GIST has been raised, it has received a lot of attention, because of its unique molecular and clinical features. c-kit mutations could be found in most of the gastrointestinal stromal tumors. However, the molecular effect of this mutation remains unclear. This study aimed to explore the effect of c-kit mutation on GIST from gene expression profiling. Methods: c-kit wild type and c-kit mutant GIST samples were collected. These samples were used to extract RNA and build libraries for RNA sequencing. Gene enrichment analysis was performed using the differentially expressed genes. Results: Expression profiles between c-kit mutant and wildtype patients revealed 263 genes with significant differences. Conclusion: c-kit mutation is widely involved in various biological processes and signaling pathways of tumors. The differentially expressed genes caused by c-kit mutations are enriched in several signaling pathways, such as endoplasmic reticulum stress, JNK, Hedgehog, FoxO signaling pathways, as well as glutamine, glutamic acid metabolism, mRNA metabolism, histone demethylation processes.

Key words: Gastrointestinal stromal tumor, RNA sequencing, gene mutation