Fibroblast growth factor receptor 1 gene mutation as a potential risk factor for spontaneous intracranial hemorrhage in pediatric low-grade glioma patients.

Background: Fibroblast growth factor receptor 1 () mutations have been associated with poorer prognoses in pediatric central nervous system tumor patients. A recent study highlighted a link between mutations and spontaneous intracranial hemorrhage (ICH), demonstrating that all patients with an alteration experienced hemorrhage at some point during their course of treatment.

Methods: The current study examined 50 out of 67 pediatric patients with low-grade gliomas (LGGs) who had genomic testing between 2011 and 2022 at our institution to determine whether a correlation exists between mutations and spontaneous ICH.

Results: We found that of the 50 patients with genomic data, 7 (14%) experienced ICH, and an additional spontaneous hemorrhage was recorded; however, no genomic testing was performed for this case. Five of the seven patients (71.4%) had an modification. In our patient population, 6 expressed a detectable mutation (66.7% [4/6] had N546K alteration, 16.7% [1/6] exons duplication, and 16.7% [1/6] had a variant of unknown significance [VUS]). The patient with the VUS had no reported spontaneous hemorrhage. Statistical analysis found a significant association between and spontaneous intracranial hemorrhage (-value = < .0001). In the patient population, all cases of alterations ( = 3) co-occurred with mutations.

Conclusions: Our case series highlights this link between the FGFR1 mutation and spontaneous intracranial hemorrhage in pediatric LGGs.