Ewing sarcoma in a child with neurofibromatosis type 1

Karen S. Fernandez, Michelle L. Turski, Avanthi Tayi Shah, Boris C. Bastian, Andrew Horvai, Steven Hardee, E. Alejandro Sweet-Cordero

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests that activation of the Ras pathway contributed to its evolution. Review of available public data suggests that secondary mutations in the Ras pathway are found in ∼3% of ESs. This case suggests that Ras pathway activation may play a role in tumor progression in a subset of ESs.

Original languageEnglish (US)
Article numbera004580
JournalCold Spring Harbor Molecular Case Studies
Issue number5
StatePublished - 2019
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)


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