Management of BRAF V600E–Mutant Ganglioglioma in a 16-Year-Old Girl

This clinical case presents the frontline treatment of a pediatric patient diagnosed with low-grade glioma. A 16-year-old female with no significant medical history presented with severe headache, vomiting, ataxia, and visual impairment, alongside imaging findings of ventriculomegaly. MRI revealed a right parietal-occipital brain mass with intraparenchymal hemorrhage. A biopsy was performed instead of full resection due to the tumor’s proximity to critical visual and thalamic structures, as well as its high-grade appearance. Pathology confirmed a ganglioglioma with a BRAF V600E mutation, a key driver in selecting the targeted treatment strategy.

Following biopsy and confirmation of the mutation, the patient began frontline therapy with a combination of dabrafenib (a BRAF inhibitor) and trametinib (a MEK inhibitor). This treatment is only appropriate for patients with BRAF V600E mutations—not BRAF fusions—due to known paradoxical tumor growth in the latter. The tumor demonstrated rapid growth shortly after biopsy, reinforcing the need for prompt therapeutic intervention. Over two years of targeted therapy, the patient exhibited a near-complete response, with significant tumor reduction and reabsorption of hemorrhage. Side effects, including skin toxicity and episodic pyrexia syndrome, were managed effectively through treatment pauses, topical medications, and occasional corticosteroids.

Surveillance imaging was conducted every three months during therapy, transitioning to six-month intervals post-treatment. The patient has now been progression-free for 24 months, with continued MRI monitoring. This case illustrates the efficacy of targeted therapy in pediatric low-grade glioma with BRAF V600E mutation, supported by a landmark 2023 study in the New England Journal of Medicine. The study showed superior response rates and safety profiles for dabrafenib plus trametinib over standard chemotherapy. Overall, this case highlights the importance of genetic profiling in guiding effective, individualized treatment strategies.