Our sequencing screen identified both previously well-recognized gene mutations including FGFR4/RAS/AKT pathway mutations and novel recurrently mutated genes, such as PTEN, GAB1 and ROBO. Most FGFR4/RAS/AKT pathway alterations, excluding GAB1, were predominantly found in ERMS (Fig. 1), suggesting that deregulated FGFR4/RAS/AKT signalling plays an important role in the pathogenesis of ERMS. Here, AKT1 is linked to embryonal rhabdomyosarcoma.