Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.
Darren M KlawinskiCatherine E CottrellKathleen M SchiefferJustin A IndykKajal GandhiElaine R MardisDiana P RodriguezJohn C BrenemanDiana S OsorioPublished in: Pediatric blood & cancer (2023)
Brainstem injury occurs secondary to radiation to the posterior fossa in up to 2% of pediatric patients. It may occur after months to years after treatment. It has been associated with age less than 5 years and with comorbid conditions such as cerebrovascular disease, diabetes mellitus, and hypertension. Radiation necrosis is often symptomatic and can be fatal. A pathogenic variant in RNF213 was found in a patient who suffered fatal radiation necrosis. This mutation has been associated with moyamoya disease and may predispose to radiation necrosis.