2023 Volume 60 Issue 5 Pages 356-361
Background: The Center for Cancer Genomics and Advanced Therapeutics (C-CAT) has been aggregating cancer genome data from comprehensive genome profiling (CGP) testing since June 2019. This optimized database provides evidence-based variant interpretations and options for targeted therapies directed to the Japanese populace. Herein, we summarize the molecular alterations in pediatric patients with solid tumors. Methods: Using the C-CAT data utilization portal site, we extracted variant information from patients aged 0–15 years, who underwent CGP testing from June 1, 2019, to April 4, 2022. Results: The data from 687 patients (288 patients with CNS tumors and 399 patients with non-CNS tumors) were available, including 467 (68%) patients with at least one germline or somatic aberrations with level F and above evidence in the C-CAT report. The most frequent genomic alterations included single nucleotide variants and insertions/deletions (in TP53, BRAF, H3F3A, PIK3CA, CTNNB1, and NF1), amplifications (in MYCN, MYC, ERBB2, CDK4, and PDGFRA), and partial or whole gene loss (in CDKN2A, CDKN2B, SMARCB1, ATRX, RB1, and PTEN). In all, 68 (10%) patients harbored a fusion gene involving EWSR1, BRAF, ALK, CIC, NTRK1, NTRK3, FGFR3, and so on. Five patients had high tumor mutation burden (≥10 mutations/Mb). Discussion: These results represent the heterogeneous mutational landscape in pediatric cancers and illustrate the importance of identifying and generating evidence for applying genomic results to the clinical care of patients.