Brain Tumor Gene Mutations Discovered in Early Childhood Cases

The St. Jude Childrens Research Hospital and Wendys restaurant started a new fundraising promotion Sunday.

A brain tumor in a young child is rare but deadly, and little is known about its genetic origins. A new study published in the journal Nature Genetics, however, presents new evidence about gene mutations that can cause a particular type of tumor that kills more than 90 percent of patients within two years.

According to Medical News Today, diffuse intrinsic pontine glioma (DIPG) occurs almost exclusively in children. The tumor grows in the brainstem at the base of the skull and interferes with vital functions like breathing and heart rate control. It cannot be removed by surgery, which means that biopsies are rare and little is known about what causes it to form.

But new research from the St. Jude Children’s Research Hospital at Washington University was able to identify several gene mutations in the brain that have not previously been identified with cancer. Study leader Suzanne Baker and colleagues found that 78 percent of DIPG tumors display changes in the histone H3 family of proteins, a genetic code that helps produce proteins that package DNA inside of cells. Disruptions in these procedures contribute to the development of cancer, Medical News Today said.

Researchers found the genetic variations after a three-year effort to sequence the complete normal and cancer genomes of 600 children with aggressive pediatric cancers. Baker says she hopes the team’s work will lead to new ways to combat brain tumors in children.

“We are hopeful that identifying these mutations will lead us to new selective therapeutic targets, which are particularly important since this tumor cannot be treated surgically and still lacks effective therapies,” Baker said.

According to Medical News Today, the histone H3 mutations had previously gone undiscovered in relation to brain tumors. The research team specifically searched for them in DIPGs, Baker said.

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