Aberrant Hh signaling can be attributed to various germline mutations— loss of chromosomal region 9q22 containing PTCH in 33% of ERMS tumors (119, 120), loss of SUFU in 18% ERMS tumors (121), and/or genomic amplification of 12q13-15 containing the GLI1 gene in a small subset of ARMS tumors (116). The gene discussed is PTCH1; the disease is embryonal rhabdomyosarcoma.