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

Abstract

Introduction: Pilocytic astrocytoma (PA) is the most common pediatric brain tumor and is generally associated with favorable outcomes following complete surgical resection. Most tumors harbor MAPK pathway alterations, particularly BRAF-KIAA1549 fusion. However, emerging evidence suggests that PAs with BRAFV600E and TP53 mutations may exhibit more aggressive biological behavior and an increased risk of recurrence. We report a recurrent pediatric PA harboring concurrent BRAFV600E and TP53 mutations and discuss the potential clinical significance of this molecular profile.

Case presentation: A 10-year-old child underwent gross total resection of a cerebellar PA. Histopathological examination confirmed the diagnosis of PA. Molecular analysis demonstrated concurrent BRAFV600E and TP53 mutations. Despite initial complete resection, the patient developed early tumor recurrence during follow-up. The recurrent lesion showed features consistent with PA without evidence of high-grade transformation. The clinical course suggests a more aggressive biological behavior than typically expected for conventional PA.

Conclusion: This case highlights the potential prognostic significance of concurrent BRAFV600E and TP53 mutations in PA. The coexistence of these alterations may identify a subset of pediatric patients at increased risk of tumor regrowth despite gross total resection. Comprehensive molecular profiling may improve risk stratification, guide surveillance strategies, and enhance understanding of the biological heterogeneity of PA.