Rhabdomyosarcoma exome sequencing. Homo sapiens

Rhabdomyosarcoma (RMS), a cancer of skeletal muscle lineage, is the most common soft-tissue sarcoma diagnosed in children. Here, we report the discovery, through whole exome sequencing, of a recurrent somatic point mutation L122R in the critical myogenic transcription factor, MYOD1, in a clinicopathologically discrinctive subset of embryonal RMS with poor outcome.