LGG-21. Fgfr1 Gene Mutation as a Potential Risk Factor for Spontaneous Intracranial Hemorrhage in Pediatric Low Grade Glioma Patients

Abstract

The Fibroblast Growth Factor Receptor 1 (FGFR1) gene is the second most altered gene in pediatric LGGs and has been associated with poorer prognoses. A recent study suggested a link between the FGFR1 mutation and spontaneous intracranial hemorrhage in pediatric LGG patients, an event that can be detrimental to cognitive development and, in some cases, even fatal. The current study aimed to further confirm this link by following 49 pediatric LGG patients treated at the Arnold Palmer Hospital for Children from 2007-2022 and investigating the occurrences of spontaneous intracranial hemorrhage. We accessed their treatment course, clinical outcome, radiographic findings, and pathological findings. Genetic analysis was performed as part of their standard of care at the time of tumor resection or biopsy. Of the forty-nine pediatric LGG patients we followed, eight (16.3%) experienced spontaneous intracranial hemorrhage. Five of these eight patients (62.5%) had an FGFR1 mutation. Out of the forty-nine patients, only six of them had an FGFR1 mutation, and five out of the six (83.3%) experienced spontaneous intracranial hemorrhage at some point during treatment. The one patient that did not experience hemorrhage lacked a classic FGFR1 mutation and presented with a variant of unknown significance that has yet to be regarded as pathogenic. These findings are consistent with the aforementioned study and are significant because, to date, little is known about the tumor-specific risk factors for these spontaneous intracranial hemorrhages. Understanding the risk factors could help clinicians better predict these occurrences and potentially prevent their devastating effects.