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Science and Research

Gene Brings Breakthrough for Rare Tumor

Mutation Could Be Key to Pediatric Brain Tumor

Scientists from Northwestern Medicine have made the first significant advance in decades in the treatment of diffuse intrinsic pontine glioma (DIPG), a rare pediatric brain tumor. Because of its location in the brainstem, DIPG can disrupt breathing, heartbeat, and motor and sensory pathways. However, a key discovery about the development of the inoperable tumor has led scientists to a potential therapy for the disease.

With about 200 cases of the disease a year, scientists have struggled to study DIPG, particularly due to the difficulty of collecting tissue from living patients. But after Nalin Gupta, MD, PhD, a surgeon from the University of California, San Francisco, developed a procedure to safely biopsy patients, Northwestern Medicine assistant professor of Neurological Surgery, Rinatro Hashizume, MD, PhD, was able to modify samples to establish cell lines and study the disease

Working with a team that included C. David James, PhD, professor in Neurological Surgery at Northwestern Medicine, Dr. Hashizume focused on a gene mutation that was recently discovered to be in the majority of patients with DIPG. The mutation affects a mechanism called histone methylation that activates and deactivates genes and influences gene expression. The scientists believe that if the proper process is restored, it could prevent the formation of tumors.

From Discovery to Drug

The study explored the effect of GSKJ4, a drug previously used to treat immune disorders, and found that mice with DIPG that received GSKJ4 survived significantly longer than those in the control group.

The research represents the first evidence for a potential drug therapy to treat mutations of histone methylation and even identifies a compound for treatment. Future studies hope to discover how long its effects can last and eventually determine its use in combination with animal model radiation.

Learn more about neurology and neurosciences at Northwestern Medicine.