PT  - JOURNAL ARTICLE
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
TI  - Osteosarcoma with apparent Ewing sarcoma gene rearrangement
AID  - 10.1101/039834
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 039834
4099  - http://biorxiv.org/content/early/2016/02/17/039834.short
4100  - http://biorxiv.org/content/early/2016/02/17/039834.full
AB  - 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 mutations of genes including RB1, ATRX, and PTCH1, 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.