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.