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

Darren M. Klawinski; Catherine E. Cottrell; Kathleen M. Schieffer; Justin A. Indyk; Kajal Gandhi; Elaine R. Mardis; Diana P. Rodriguez; John C. Breneman; Diana S. Osorio

doi:10.1002/pbc.30739

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

Darren M. Klawinski, Catherine E. Cottrell, Kathleen M. Schieffer, Justin A. Indyk, Kajal Gandhi, Elaine R. Mardis, Diana P. Rodriguez, John C. Breneman, Diana S. Osorio

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	e30739
Journal	Pediatric Blood and Cancer
Volume	71
Issue number	1
DOIs	https://doi.org/10.1002/pbc.30739
State	Published - Jan 2024

Keywords

brainstem
necrosis
radiation
vasculopathy

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10.1002/pbc.30739

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title = "Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213",

abstract = "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.",

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T1 - Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213

AU - Klawinski, Darren M.

AU - Cottrell, Catherine E.

AU - Schieffer, Kathleen M.

AU - Indyk, Justin A.

AU - Gandhi, Kajal

AU - Mardis, Elaine R.

AU - Rodriguez, Diana P.

AU - Breneman, John C.

AU - Osorio, Diana S.

PY - 2024/1

Y1 - 2024/1

N2 - 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.

AB - 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.

KW - brainstem

KW - necrosis

KW - radiation

KW - vasculopathy

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AN - SCOPUS:85174622539

SN - 1545-5009

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JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 1

M1 - e30739

ER -

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

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