RT Journal Article
SR Electronic
T1 Osteosarcoma with apparent Ewing sarcoma gene rearrangement
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 039834
DO 10.1101/039834
A1 Melissa Mathias
A1 Alexander J Chou
A1 Paul Meyers
A1 Neerav Shukla
A1 Meera Hameed
A1 Narasimhan Agaram
A1 Lulu Wang
A1 Michael F. Berger
A1 Michael Walsh
A1 Alex Kentsis
YR 2016
UL http://biorxiv.org/content/early/2016/02/17/039834.abstract
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.