Medulloblastomas, CNS embryonal tumors, and cerebellar mutism syndrome: advances in care and future directions

• Published in: Child's nervous system 2023-10, Vol.39 (10), p.2633-2647
• Main Authors: Patel, Nirali, Keating, Gregory, Solanki, Guirish A., Syed, Hasan R., Keating, Robert F.
• Format: Article
• Language: English
• Subjects: Medicine; Medicine & Public Health; Neurosciences; Neurosurgery; Review
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/s00381-023-06112-x

Central nervous system (CNS) embryonal tumors, commonly found in pediatric patients, represent a heterogeneous mix of lesions with an overall poor (though improving) prognosis. Medulloblastomas are by far the most frequently encountered and most widely studied subtype, though others include atypical teratoid/rhabdoid tumors (AT/RTs), embryonal tumor with multilayered rosettes (ETMRs), and CNS neuroblastomas, FOX-R2 activated. The classification, diagnosis, and treatment of these lesions have evolved drastically over the years as their molecular underpinnings have been elucidated. We describe the most recent 2021 WHO Classification system, discuss current understanding of the genetic basis, and demonstrate current thinking in treatment for these highly complex tumors. Since surgical resection continues to remain a mainstay of treatment, preventing and managing surgical complications, especially cerebellar mutism syndrome (CMS), is paramount. We describe the current theories for the etiology of CMS and two centers’ experience in mitigating its risks. As our surgical toolbox continues to evolve along with our understanding of these tumors, we hope future patients can benefit from both improved overall survival and quality of life.