Genes pinpoint kids' bone cancer outcomes

An analysis by researchers at the Huntsman Cancer Institute at the University of Utah of the genome of Ewing sarcoma, the second most common bone tumor in children and young adults, could lead to a potential prognostic tool for this cancer. Ewing sarcoma does not have a good outcome, especially once it has metastasized or relapsed, and leads from this research could be used to develop new targeted treatments.

The team used a technology called molecular inversion probes (MIPs) to look at copy number alterations (CNAs--also known as copy number variations or CNVs) in archived samples of primary tumors and metastases. CNAs are a result of deletions or duplications in stretches of DNA and have been linked with a number of different cancers. The results were published online in Cancer Genetics.

A group of patients had a stretch of DNA missing that included a gene called SMARCB1. According to principal investigator Dr. Joshua Schiffman: "Discovering this new subset of Ewing sarcoma is especially important because the patients with this deletion were among the long-term survivors. It opens up questions about the biology of this tumor and whether patients with this type of cancer need different treatment."

Other changes in the genome could be used to spot patients likely to have longer-term survival after diagnosis--only 40% of patients with one or more of 8 genetic markers survived more than 12 years after diagnosis, compared with 100% of the patients with none of the markers.

The researchers also spotted a gene in metastases that wasn't found in the original (primary) tumor. Targeting this could lead to treatments that don't destroy the original tumor but stop it from spreading, meaning that patients would live with the cancer rather than die from it. The research will have to be validated with a larger number of samples, but the MIPs technique allows researchers to use archived tissues.

- read the abstract
- see the press release

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