Researchers with Philadelphia-based Children’s Hospital of Philadelphia and Washington, D.C.-based Children’s National Hospital identified rare inherited genetic variants that increase the spine and brain tumor risk in pediatric patients.
The study, published in Nature Communications, analyzed blood and tumor samples from 830 children with central nervous system tumors. They found 23.3% of them have a genetic change in a known cancer risk gene. And 7% of those children had a previously diagnosed genetic condition tied to tumor development. Six percent had clinically unrecognized changes in genes associated with CNS tumors.
Researchers also found that 35% of children with the genetic risk variants has more changes the same genes within their tumors, leading to loss of gene function.
“We are currently expanding our study to include parental sequencing and more than doubling the number of patients,” Jo Lynne Rokita, PhD, a co-senior study author, said in a Nov. 21 news release. “This will help us better understand how inherited or early arising genetic changes interact with those that develop in the tumor, ultimately improving how we diagnose, monitor, and treat children with brain and spinal cord cancers.”
