Analysis of the Clinicopathologic Characteristics of Colorectal Cancer with TSC2 Mutation

Abstract Background: Colorectal cancer (CRC) is the third most prevalent cancer diagnosis and leading the third most cancer mortality worldwide. The TSC2 gene is recognized for its important role in regulating a multitude of biological processes, with some studies suggesting that it may function as a prognostic marker for many types of tumors. Methods: In our study, we enrolled 102 CRC patients and conducted next-generation sequencing on their tumor tissues to assess mutations of gene. The mutation rate of the TSC2 gene was found to be 7.84%. We investigated the association between TSC2 mutations and the clinicopathological features among CRC patients. Results: Mutations in TSC2 were significantly associated with low differentiation of tumor, microsatellite instability, and presence of nerve invasion. Bioinformatics analysis provided further insight, revealing that TSC2 in CRC patients is significantly linked to reduced overall and disease-free survival rates. Additionally, we selected 800 co-expressed genes of TSC2, and research gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway. The results underscored TSC2 important regulatory function in numerous biological processes. Conclusions:In conclusion, TSC2 appears to have a potential link to the progression of CRC. The analysis of TSC2 mutations could be used as a effective prognostic tool for patients with CRC, offering a new dimension in the clinical management and therapeutic strategies for this prevalent cancer.