Osteosarcoma with apparent ewing sarcoma gene rearrangement Academic Article uri icon

Overview

MeSH Major

  • Gene Rearrangement
  • Osteosarcoma
  • Sarcoma, Ewing

abstract

  • Poorly differentiated round cell sarcomas present diagnostic challenges because of 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.

publication date

  • January 2016

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4928585

Digital Object Identifier (DOI)

  • 10.1097/MPH.0000000000000553

PubMed ID

  • 27352193

Additional Document Info

start page

  • e166

end page

  • 8

volume

  • 38

number

  • 5