TY - JOUR T1 - Osteosarcoma with apparent Ewing sarcoma gene rearrangement JF - bioRxiv DO - 10.1101/039834 SP - 039834 AU - Melissa Mathias AU - Alexander J Chou AU - Paul Meyers AU - Neerav Shukla AU - Meera Hameed AU - Narasimhan Agaram AU - Lulu Wang AU - Michael F. Berger AU - Michael Walsh AU - Alex Kentsis Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/02/18/039834.abstract N2 - Poorly differentiated round cell sarcomas present diagnostic challenges due to their variable morphology and lack of specific immunophenotypic markers. We present a case of a 15-year-old female with a tibial tumor that exhibited features of Ewing-like sarcoma, including apparent rearrangement of the EWSR1 gene. Hybridization capture-based next-generation DNA sequencing showed evidence of complex genomic rearrangements, absence of known pathogenic Ewing-like chromosome translocations, and deletions RB1, PTCH1, and ATRX, supporting the diagnosis of osteosarcoma. This illustrates the potential of clinical genomic profiling to improve diagnosis and enable specifically targeted therapies for cancers with complex pathologies. ER -