Osteosarcoma with apparent Ewing sarcoma gene rearrangement Journal Article


Authors: Mathias, M. D.; Chou, A. J.; Meyers, P.; Shukla, N.; Hameed, M.; Agaram, N.; Wang, L.; Berger, M. F.; Walsh, M.; Kentsis, A.
Article Title: Osteosarcoma with apparent Ewing sarcoma gene rearrangement
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. © 2016 Wolters Kluwer Health, Inc. All rights reserved.
Keywords: osteosarcoma; molecular analysis; ewsr1
Journal Title: Journal of Pediatric Hematology/Oncology
Volume: 38
Issue: 5
ISSN: 1077-4114
Publisher: Lippincott Williams & Wilkins  
Date Published: 2016-07-01
Start Page: e166
End Page: e168
Language: English
DOI: 10.1097/mph.0000000000000553
PROVIDER: scopus
PMCID: PMC4928585
PUBMED: 27352193
DOI/URL:
Notes: Article -- Export Date: 2 August 2016 -- Source: Scopus
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MSK Authors
  1. Meera Hameed
    139 Hameed
  2. Narasimhan P Agaram
    117 Agaram
  3. Alexander Ja-Ho Chou
    55 Chou
  4. Lu Wang
    139 Wang
  5. Michael Forman Berger
    392 Berger
  6. Paul Meyers
    247 Meyers
  7. Neerav Shukla
    72 Shukla
  8. Alex   Kentsis
    50 Kentsis
  9. Melissa Divya Mathias
    14 Mathias
  10. Michael Francis Walsh
    49 Walsh