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For children with rhabdomyosarcoma, a test for a specific genetic change could eventually improve risk estimates and treatment decisions. These results were published in the Journal of Clinical Oncology.

Rhabdomyosarcoma is a soft-tissue cancer that arises from skeletal muscle. It is the most common soft-tissue sarcoma among children.

Treatment for rhabdomyosarcoma often involves chemotherapy and surgery, and may also involve radiation therapy. Information about the aggressiveness of the rhabdomyosarcoma can help individualize treatment decisions, but current approaches to classifying rhabdomyosarcomas have some limitations.

To explore new ways of classifying rhabdomyosarcoma risk, researchers analyzed thousands of genes from 225 rhabdomyosarcoma samples.

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A specific genetic alteration—known as the PAX3/FOXO1 fusion gene—was linked with worse survival. Furthermore, the combination of the PAX3/FOXO1 results with standard clinical measures resulted in a more accurate estimate of rhabdomyosarcoma prognosis than standard clinical measures alone.

These results suggest that genetic testing of rhabdomyosarcoma may eventually allow for more accurate classification of risk and more tailored treatment. This could benefit children by reserving intense treatment—and the side effects that accompany it—for those who truly need it.

Reference: Missiaglia E, Williamson D, Chisholm J et al. PAX3/FOXO1 Fusion Gene Status Is the Key Prognostic Molecular Marker in Rhabdomyosarcoma and Significantly Improves Current Risk Stratification. Journal of Clinical Oncology. Early online publication March 26, 2012.

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