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Research shows missing, mutated genes occur simultaneously in unique set of pediatric brain tumors

Published on January 13, 2010 at 3:24 AM · No Comments

Brain cancer is the leading cause of cancer death in children. Now a more accurate diagnosis of childhood brain cancers may soon be possible, according to researchers at Huntsman Cancer Institute (HCI) at the University of Utah. The information is published online today in the journal Cancer Research.

"Researchers already know cancerous tumors often lack certain copies of genes. They also know certain cancer-promoting genes are mutated in cancer patients," says Joshua Schiffman, M.D., an HCI investigator. "But what's significant about this new research is that we've shown these two events occur simultaneously in a unique set of pediatric brain tumors ― a finding previously unknown in these pediatric patients."

Schiffman, along with researchers from several other institutions including Stanford, Washington University, and UCSF, studied the tumors of pediatric brain cancer patients. Brain tumors are typically classified into grades 1-4 at the time of diagnosis based on their appearance under the microscope. Schiffman and colleagues studied samples from each brain tumor grade using new technology to detect either missing copies or extra copies of DNA. They also looked for mutations, or changes, in the DNA from the same brain tumor samples that can cause improper functioning of genes resulting in cancer. Researchers discovered genetic differences in the different tumor grades that may help explain tumor development and could lead to more accurate diagnosis and categorization of patients. While more research is needed, Schiffman believes these findings can eventually lead to more targeted and individualized treatments.

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