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Journal of Oncology
Volume 2010, Article ID 397632, 6 pages
Review Article

Is There a Predisposition Gene for Ewing's Sarcoma?

1Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute and Primary, Children's Medical Center, The University of Utah, Utah, UT 84112, USA
2Department of Oncological Sciences, Division of Pediatric Hematology/Oncology, Center for Children's Cancer Research, Huntsman Cancer Institute, The University of Utah, Utah, UT 84112, USA
3Division of Medical Oncology, The University of Utah, Utah, UT 84112, USA
4Department of Orthopaedics, Indiana University, Indiana, IN 46202, USA
5Division of Genetic Epidemiology, Department of Internal Medicine, The University of Utah, Utah, UT 84112, USA
6George E. Wallen Department, Veterans Affairs Medical Center, Salt Lake City, The University of Utah, Utah, UT 84148, USA

Received 25 August 2009; Revised 14 December 2009; Accepted 8 February 2010

Academic Editor: Frederic G. Barr

Copyright © 2010 R. L. Randall et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Ewing's sarcoma is a highly malignant tumor of children and young adults. The molecular mechanisms that underlie Ewing's Sarcoma development are beginning to be understood. For example, most cases of this disease harbor somatic chromosomal translocations that fuse the EWSR1 gene on chromosome 22 with members of the ETS family. While some cooperative genetic events have been identified, such as mutations in TP53 or deletions of the CDKN2A locus, these appear to be absent in the vast majority of cases. It is therefore uncertain whether EWS/ETS translocations are the only consistently present alteration in this tumor, or whether there are other recurrent abnormalities yet to be discovered. One method to discover such mutations is to identify familial cases of Ewing's sarcoma and to then map the susceptibility locus using traditional genetic mapping techniques. Although cases of sibling pairs with Ewing's sarcoma exist, familial cases of Ewing's sarcoma have not been reported. While Ewing's sarcoma has been reported as a 2nd malignancy after retinoblastoma, significant associations of Ewing's sarcoma with classic tumor susceptibility syndromes have not been identified. We will review the current evidence, or lack thereof, regarding the potential of a heritable condition predisposing to Ewing's sarcoma.