Study of the Day: Gene Mutations Found in Kids With Brain Cancer

Just in time for World Cancer Day tomorrow: New research uncovers the genetic roots of pediatric tumors and suggests new treatment paths.

main frantab shutterstock_76478602.jpg

PROBLEM: Brain tumors are the leading cause of death for children with cancer in Europe and North America. Unfortunately, the diagnosis of glioblastoma in a child or adolescent remains a death sentence because this form of cancer has proven unresponsive to chemo and radiotherapy treatment.

METHODOLOGY: An international team led by the Research Institute of the McGill University Health Centre deciphered the molecular pathogenesis of pediatric brain tumors. They conducted a comprehensive mutation analysis in protein-coding genes by performing whole-exome sequencing on 48 well-characterized tumor-tissue samples collected from three- to 20-year-old patients.

RESULTS: The scientists found two mutations in an important gene known as the histone H3.3, which is responsible for up to 40 percent of glioblastomas in children. Since this gene is key in modulating the expression of our genes, "[t]hese mutations prevent the cells from differentiating normally and help protect the genetic information of the tumor, making it less sensitive to radiotherapy and chemotherapy," says principal investigator Nada Jabado in a statement.

CONCLUSION: Mutations in the histone H3.3 gene are involved in DNA regulation and may explain pediatric glioblastoma's resistance to traditional cancer treatments.

IMPLICATION: For the first time, scientists have identified changes in a gene that regulates and protects tumor-making genetic information. Jabado says this is "irrefutable proof that our genome, if modified, can lead to cancer and probably other diseases."

SOURCE: The full study, "Driver Mutations in Histone H3.3 and Chromatin Remodelling Genes in Paediatric Glioblastoma," is published in the journal Nature.

Image: frantab/Shutterstock.

Presented by

Hans Villarica writes for and produces The Atlantic's Health channel. His work has appeared in TIME, People Asia, and Fast Company.

A New York City Minute, Frozen in Time

This wildly inventive short film takes you on a whirling, spinning tour of the Big Apple

Join the Discussion

After you comment, click Post. If you’re not already logged in you will be asked to log in or register with Disqus.

Please note that The Atlantic's account system is separate from our commenting system. To log in or register with The Atlantic, use the Sign In button at the top of every page.

blog comments powered by Disqus

Video

A New York City Minute, Frozen in Time

This short film takes you on a whirling tour of the Big Apple

Video

What Happened to the Milky Way?

Light pollution has taken away our ability to see the stars. Can we save the night sky?

Video

The Faces of #BlackLivesMatter

Scenes from a recent protest in New York City

Video

Ruth Bader Ginsburg on Life

The Supreme Court justice talks gender equality and marriage.

Video

The Pentagon's $1.5 Trillion Mistake

The F-35 fighter jet was supposed to do everything. Instead, it can barely do anything.

More in Health

Just In