Molecular genomic landscape of pediatric solid tumors in Chinese patients: Implications for clinical significance

Abstract Background: Pediatric solid tumors are significantly different from adult tumors in terms of epidemiology, pathogenesis, prognosis and molecular characteristics. Studies have revealed genomic aberrations in pediatric solid tumors, but these analyses were based on Western populations. Currently, it is not known to what extent the existing genomic findings represent differences in ethnic backgrounds. What’s more, treatment options for childhood tumors are limited. Understanding the genetic landscape unique to childhood tumors may help expand the therapeutic options of childhood cancers. Results: We retrospectively analyzed the basic clinical characteristics of the patients, including age, cancer type, and sex distribution, and further analyzed the somatic and germline mutations of cancer-related genes in a Chinese cohort including 318 pediatric patients with CNS or non-CNS solid tumors. Somatic mutation analysis showed that there were significant differences in mutation types between CNS tumors and non-CNS tumors. P/LP germline variants were identified in 8.49% of patients. In total, 42.8% patients prompted diagnostic, 37.7% patients prompted prognostic, 58.2% patients prompted therapeutic, and 8.5% patients prompted tumor-predisposing and preventive. We investigated the clinical significance of genomic mutations on therapeutic, prognostic, diagnostic, and preventive actions, and analyzed the proportion of various clinically significant mutations. Conclusions: Our study is the first large scale study to analyze the landscape of genetic mutations in pediatric patients with solid tumors in China. Genomic findings in CNS and non-CNS solid pediatric tumors provide evidence for the clinical classification and individualized treatment of pediatric tumors, and they will facilitate improvement of clinical management. Data presented in this study should serve as a reference to guide the future design of clinical trials.