phs000412
St. Jude Children''s Research Hospital - Washington University Pediatric Cancer Genome Project (PCPG): Whole Genome Sequencing of Childhood Rhabdomyosarcoma
Rhabdomyosarcoma is a pediatric cancer of the developing muscle. There are two major subtypes of rhabdomyosarcoma-alveolar and embryonal. Subsets of these tumors have translocations that create in-frame fusions between Pax3-Fkhr and Pax7-Fkhr loci. To identify other genetic lesions in rhabdomyosarcoma, we performed whole genome sequencing of tumor and normal DNA of 13 children with rhabdomyosarcoma. 7 of the samples had histopathological features consistent with embryonal rhabdomyosarcoma. 5 had features of alveolar rhabdomyosarcoma and 1 could not be classified into these two subtypes. Two of the samples were metastatic lesions and two were recurrent lesions. The Pax3 and Pax7 translocations were identified in a subset of the tumors and the embryonal rhabdomyosarcomas had extensive genomic rearrangements and copy number changes consistent with genome instability. A number of important developmental/cancer pathways were recurrently mutated in this cohort... (for more see dbGaP study page.)