A new study from Seattle’s Fred Hutchinson Cancer Research Center has found the cause of a type of aggressive brain cancer, pointing to potential treatments down the line.
Many cases of the cancer, called ependymoma, can be traced back to a single, catastrophic mutation in the patient’s DNA. While the presence of this mutation has been known for some time, this study is the first to prove that it actually causes the disease. The study was published Tuesday in the journal Cell Reports.
“It looks like a region of the DNA blew up,” Fred Hutch researcher Eric Holland, who led the study, said in a press release. Holland is a neurosurgeon and director of the Human Biology Division at Fred Hutch. “There are pieces of it shifted around, shuffled and pasted back together.”
The findings mean that researchers could someday find a more effective treatment for this sub-type of the disease, which has a long-term survival rate of less than 30 percent. Patients with ependymomas who don’t have this mutation have a long-term survival rate of 67 percent.
“The paper proves that this gene fusion, caused by a chromosomal event called chromothripsis, is very likely the first event and the actual cause of the disease in humans,” Holland said. “If we knew how to counteract that gene fusion’s effects, we would have a good handle on treating that subset of ependymoma.”
Ependymoma is a small subset of brain cancers, accounting for 4 percent of all adult brain cancers and 10 percent of all childhood brain cancers.