Osteosarcoma with apparent ewing sarcoma gene rearrangement

Melissa D. Mathias, Alexander J. Chou, Paul Meyers, Neerav Shukla, Meera Hameed, Narasimhan Agaram, Lu Wang, Michael F. Berger, Michael Walsh, Alex Kentsis

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)e166-e168
JournalJournal of Pediatric Hematology/Oncology
Issue number5
StatePublished - 2016
Externally publishedYes


  • EWSR1
  • Molecular analysis
  • Osteosarcoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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