Central Nervous System Cancers in Patients with Non-Neurofibromatosis Type 1 RASopathies

RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Neurofibromatosis type 1 (NF-1) is the most common RASopathies associated with central nervous system (CNS) cancers. Germline mutations, mutations that can be passed down, reported in non-NF-1 RASopathies overlap with the other mutations found in several pediatric cancers, particularly low-grade gliomas (LGGs). Since non-NF-1 RASopathies can be often overlooked or misdiagnosed, researchers believe their association with CNS cancers may be more common than currently recognized. Researchers also hypothesize that the molecular abnormalities in CNS cancers in subjects with non-NF-1 RASopathies will be distinct from non-affected patients. This difference could influence a patient’s response to new treatments. Researchers will increase the sample size and impact of this project through access to data in the Pediatric Brain Tumor Atlas.