- Investigators at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center found that precision medicine can be used to diagnose genetic abnormalities and properly treat patients with pediatric brain cancers.
By testing tumor samples, researchers were able to demonstrate that finding genetic anomalies in brain tumors is a clinically feasible way to guide patient treatment, the researchers concluded in a press release. The authors of the study say there is an urgent need to find new methods for treating brain cancer in children.
While the National Center for Health Statistics notes that pediatric cancer deaths dropped by 20 percent from 1999-2014, brain cancer deaths jumped from 23.7 percent to 29.9 percent, becoming the leading cause of cancer deaths from 1-19 year olds.
"Although there has been a great deal of progress over the past 30 years in improving survival rates for children with cancer, advances in pediatric brain cancer haven't been as dramatic," says co-lead author Pratiti Bandopadhayay, MBBS, PhD, of Dana-Farber/Boston Children's. "In addition, many of the current therapies can result in long-term difficulties in cognitive or physical functioning."
By examining the genomes of 203 pediatric brain tumor samples, representative of all major subtypes of pediatric brain cancer, researchers used two methodologies to see which tests have the strongest impact on patient treatment.
One hundred and seventeen of the samples underwent OncoPanel testing, which sequences the sections of DNA that make specific cell proteins. One hundred and forty six of the samples underwent OncoCopy testing only, which examines if copies of genes are missing or overabundant within tumor cells. Sixty of the samples underwent both types of testing to see if combining the two tests was better than a stand-alone testing method.
Fifty-six percent of the OncoPanel tested samples contained genetic abnormalities with clinical relevance to a patient's diagnosis. The OncoPanel tested samples also offered doctors ways to approach targeted treatment with drugs in clinical use or under clinical trial. When both tests were combined, clinically relevant abnormalities were found in 89 percent of medulloblastomas, accounting for nearly a fifth of all brain tumors in children.
The study also found that alterations were found in the gene BRAF, one of the most commonly mutated genes in pediatric brain tumors.
Precision medicine provides significant opportunities in advancing cancer treatment, and preventing pediatric cancer deaths. Since President Obama unveiled the Precision Medicine Initiative (PMI), there has been a shift in the precision medicine field, steadily moving into practical care applications.
With the launch of the PMI, various precision medicine labs, research centers, and academic institutions have led the way in building a dedicated understanding of precision medicine. These organizations include the AMA, Department of Defense, and the Patient-Empowered Precision Medicine Alliance.
"The importance of genomic profiling in the diagnosis and treatment of pediatric brain cancers is reflected in the World Health Organization's recent decision to classify such tumors by the genetic alterations within them, rather than by broad tumor type," says study co-senior author Susan Chi, MD, of Dana-Farber/Boston Children's. "Targeted therapies are likely to be most effective when they're matched to specific abnormalities within tumor cells. Our findings show that precision medicine for pediatric brain tumors can now be a reality.”