Recurrent Pediatric Pilocytic Astrocytoma with BRAFV600E and TP53 Mutations: Case Report and Literature Review

Pilocytic astrocytoma (PA) is the most common pediatric brain tumor and is typically characterized by indolent behavior, MAPK pathway activation, and favorable outcomes following complete resection. However, emerging genomic data indicate that a subset of PAs harboring BRAFV600E and TP53 mutations may exhibit more aggressive biological features, including early progression, regrowth, and recurrence. BRAFV600E induces constitutive MAPK signaling and enhances tumor proliferation, while pathogenic TP53 mutations disrupt apoptotic control and genomic stability, together promoting a higher-risk molecular profile. Although BRAF-KIAA1549 fusion remains the predominant alteration in cerebellar PA, BRAFV600E and TP53 mutations-individually or in combination-have been reported in few cases demonstrating infiltrative behavior. We report 10-years old child with recurrent PA harboring concurrent BRAFV600E and TP53 mutations, emphasizing the potential biological significance of this dual-mutant genotype. This case supports the growing recognition that specific molecular variants may identify children at increased risk of early tumor regrowth despite initial gross total resection.