Targeted Resequencing Of Pediatric Rhabdomyosarcoma: Report From The Children'S Oncology Group, The Children'S Cancer And Leukaemia Group, The Institute Of Cancer Research Uk, And The National Cancer Institute.

10515Background: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. Despite aggressive therapy, the 5-year survival rate for patients with metastatic or recurrent disease remains poor. Genomic studies by our group and others have identified 39 genes as known or potential somatic driver mutations in RMS. We therefore performed a large-scale validation study through an international consortium to more accurately determine the incidence of driver mutations and their association with clinical outcome. Methods: Formalin fixed paraffin embedded material was collected from patients enrolled on Children’s Oncology Group trials and UK patients enrolled on MMT trials. Pathology was reviewed centrally and extracted DNA subjected to targeted capture sequencing. Mutations, indels, deletions, gene amplifications and genome-wide copy number variation was called using analysis pipelines developed at the NCI. Results: DNA from six hundred and thirty-one patients was suitable for analyses. A median...