Study reveals genetic risks in children with CNS tumors
Researchers from CHOP and Children’s National have identified genetic mutations linked to increased risk of pediatric brain and spinal cord tumors, highlighting the need for improved screening and early detection strategies.
New research from Children’s Hospital of Philadelphia (CHOP) and Children’s National Hospital in Washington D.C. discovered certain genetic risks associated with brain and spinal cord tumors in children. Key findings are summarized in a press release.
The study gives scientists a new understanding of pediatric cancers of the central nervous system (CNS). Using the Pediatric Brain Tumor Atlas, the researchers investigated more than 800 pediatric patients’ blood and tumor samples. Key findings:
Just under one quarter of children “carried a genetic change in a gene known to increase cancer risk.”
Only 7% of participants had previously been diagnosed with a known genetic condition associated with tumor development.
6% of participants were carriers of “genetic changes in CNS tumor-associated genes that had not yet been clinically recognized.”
35% of participants that carried genetic risk factors also experienced “additional changes in the same genes within their tumors, leading to loss of normal gene function.”
CHOP is calling for additional screening for pediatric brain and spinal cord tumor patients. The authors are working on growing the study to include more children and their parents. The goal of this action is to improve outcomes for these patients. The study is published in Nature Communications.
