Functional characterization of somatically mutated genes in neuroblastoma

To identify driver mutations in high risk neuroblastoma, whole-exome sequencing of 26 primary high risk neuroblastoma tumours was performed. Overall, a low mutation rate was observed in comparison to adult cancers. Few genes were recurrently mutated, indicating a substantial genomic heterogeneity of this tumour entity. In some tumours bearing MYCN amplification, driver mutations were identified in additional bona fide cancer genes such as ALK and KRAS. We selected a subset of mutated genes with known or putative implications in cancer (e.g., KRAS, CYP4X1 and FH) to elucidate their contribution to the molecular p…