Many patients who have both familial and sporadic forms of cerebral cavernous malformations (CCMs) have mutations in genes that are also known to play a role in cancer genesis. Some of these genes either play a role in oncogenesis, anti-apoptosis, or angiogenesis. Many pediatric patients with tumors receive subsequent radiation therapy and at long-term followup, a select subset have been found to have radiation-induced cavernomas. Here, we seek to evaluate and compare the genetic mutations found in patients with familial CCMs to patients with radiation-induced CCMs to determine if any particular class of mutations may be targeted for further study.
What is the impact of this project?
Based on the results, we will be able to narrow on genes that are known to intersect with the canonical cavernoma mutations in the CCM family and better understand how these pathways may intersect.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.