Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213

Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213

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 hyperten...

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Bibliographic Details
Published in:Pediatric blood & cancer Vol. 71; no. 1; pp. e30739 - n/a
Main Authors: Klawinski, Darren M., Cottrell, Catherine E., Schieffer, Kathleen M., Indyk, Justin A., Gandhi, Kajal, Mardis, Elaine R., Rodriguez, Diana P., Breneman, John C., Osorio, Diana S.
Format: Journal Article
Language:English
Published: Glenview Wiley Subscription Services, Inc 01-01-2024
Subjects:
Brain stem
brainstem
Cerebrovascular diseases
Diabetes mellitus
Hematology
Medulloblastoma
Moyamoya disease
Necrosis
Oncology
Patients
Pediatrics
radiation
vasculopathy
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.30739