Mutational landscape of Chinese osteosarcoma patients.

e23512 Background: Osteosarcoma is the bone tumor which is still incompletely understood. This disease most commonly affects children, adolescents, and young adults. The next-generation sequencing technology is a powerful tool to investigate the genetic basis for this disease. Methods: 12 Chinese patients diagnosed with osteosarcoma were enrolled in this study. The tumor tissue or serial blood sample was collected for each individual and the next-generation sequencing was performed using Haplox 605-gene panel. Mutational landscape was analyzed in the cohort. To explore the biological function of the most frequently mutated genes, GO term and KEGG pathway enrichment analysis were performed. Results: In total, 54 genes related to cancer were detected mutated in these patients. The most frequent alterations were CNKN2A(5/12), CSMD3(3/12), FGFR1(3/12), FGFR3(3/12), FGF4(3/12), TP53(3/12), KRAS(3/12), JAK2(3/12). While CNKN2A works as the stabilizer of the tumor suppressor protein TP53, we found 5 patients were with CNKN2A deletion. Also, there were 3 patients with FGFR1 amplification, 3 patients with TP53 substitution, 3 patients with FGFR3 deletion, and 3 patients with CSMD3 substitution. For FGF4, there were 2 deletions and 1 substitution. For KRAS, there were 2 amplifications and 1 substitution. For JAK2, there were 2 deletions and 1 substitution. The enrichment analysis revealed that positive regulation of biological process, developmental process, and signaling were the most enriched (p < 10-6). Conclusions: Our study explored the most frequently mutated gene in Chinese osteosarcoma patients. Moreover, the enrichment analysis indicated that the genes were enriched in positive regulation of biological process, developmental process, and signaling.