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NIH scientists map gene changes driving tumors in common pediatric soft-tissue cancer
Date:1/23/2014

Scientists have mapped the genetic changes that drive tumors in rhabdomyosarcoma, a pediatric soft-tissue cancer, and found that the disease is characterized by two distinct genotypes. The genetic alterations identified in this malignancy could be useful in developing targeted diagnostic tools and treatments for children with the disease. The study, by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and their colleagues, appeared in the Jan. 23, 2014, issue of the journal Cancer Discovery.

Rhabdomyosarcoma is the most common soft-tissue sarcoma in children and affects muscles in any part of the body. Among patients diagnosed with non-metastasized disease, about 80 percent survive at least five years, although they may experience substantial treatment-related toxic effects. However, for those with metastatic disease, the five-year survival rate is about 30 percent even with aggressive treatment.

NCI's effort to characterize the genetic events that contribute to rhabdomyosarcoma was led by Javed Khan, M.D., head of the Oncogenomics Section, Pediatric Oncology Branch, Center for Cancer Research, and Jack Shern, M.D., a clinical fellow.

"These studies are very difficult to do because tissue acquisition and validation is so complex," said Khan. "It must be noted therefore that this work would not have been possible without our brave pediatric patients and their families. In the face of their life-threatening disease, they offered their tumors for study knowing that they would not personally benefit from this work but in the hope that investigators might learn lessons that would help children diagnosed with rhabdomyosarcoma in the future."

Khan's team used a number of advanced sequencing techniques to investigate the genetic changes in a total of 147 rhabdomyosarcoma tumors which were paired with normal tissue samples. These sequencing tools allowed them to unravel the compl
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Contact: NCI Press Officers
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NIH/National Cancer Institute
Source:Eurekalert

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