Pediatric pituitary adenoma and medulloblastoma in the setting of p53 mutation: case report and review of the literature

• Published in: Child's nervous system Vol. 38; no. 9; pp. 1783 - 1789
• Main Authors: Birk, H., Kandregula, S., Cuevas-Ocampo, A., Wang, C. Jake, Kosty, J., Notarianni, C.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.09.2022
• Subjects: Case Report; Medicine; Medicine & Public Health; Neurosciences; Neurosurgery; Pediatric; TP53 mutation; Medulloblastoma; Pituitary adenoma; Li-Fraumeni syndrome
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/s00381-022-05478-8

Li-Fraumeni syndrome is a cancer predisposition condition associated with various tumor types. We present the case of a 6-year-old boy who initially presented with a pituitary adenoma that was successfully treated with surgery. It ultimately recurred, requiring further surgical intervention followed by proton beam therapy. He later developed a medulloblastoma, and genetic testing revealed TP53 germline mutation. The patient underwent gross total resection of this medulloblastoma, followed by proton-based craniospinal irradiation and adjuvant chemotherapy. He remained disease-free 12 months after radiation and 7 months after chemotherapy. Current literature does not report pituitary adenoma as the initial central nervous manifestation in Li-Fraumeni syndrome. Early genetic testing should be considered in pediatric patients who present with such rare tumor types to help identify cancer predisposing conditions. Furthermore, as evidenced by our case, the management of multiple brain tumors in the pediatric population poses challenges. A multidisciplinary approach involving neurosurgery, pediatric oncology, pathology, and radiation oncology remains crucial to optimize patient outcomes.