Combining extensive information about structural genomic aberrations and their consequences at the RNA level revealed highly frequent rearrangements affecting the tumor suppressor genes TP53, RB1 and CDKN2A, and for the first time a recurrent gene fusion, involving PMP22 and ELOVL5, and extensive transcript fusion without genomic evidence as a characteristic of osteosarcoma. The gene discussed is RB1; the disease is osteosarcoma.