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Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5). pii: a004580. doi: 10.1101/mcs.a004580. Print 2019 Oct.

Ewing sarcoma in a child with neurofibromatosis type 1.

Author information

1
Division of Hematology/Oncology, Valley Children's Hospital, Madera, California 93636, USA.
2
Molecular Oncology Initiative, University of California, San Francisco, San Francisco, California 94158, USA.
3
Division of Hematology and Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, California 94158, USA.
4
Departments of Dermatology and Pathology, University of California, San Francisco, San Francisco, California 94158, USA.
5
Department of Pathology, University of California, San Francisco, San Francisco, California 94158, USA.
6
Division of Pathology, Valley Children's Hospital, Madera, California 93636, USA.

Abstract

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.

KEYWORDS:

Ewing's sarcoma; multiple cafe-au-lait spots; neurofibromas

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