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

Nationwide Children’s Hospital
Cincinnati Children's Hospital Medical Center

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

2 Scopus citations

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
Pages (from-to)	e30739
Journal	Pediatric Blood and Cancer
Volume	71
Issue number	1
DOIs	https://doi.org/10.1002/pbc.30739
State	Published - Jan 2024

Keywords

Adenosine Triphosphatases/genetics
Brain Stem/pathology
Cerebellar Neoplasms/genetics
Child, Preschool
Genetic Predisposition to Disease
Humans
Medulloblastoma/genetics
Moyamoya Disease/pathology
Necrosis/complications
Protons
Radiation Injuries/pathology
Ubiquitin-Protein Ligases/genetics

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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.",

keywords = "Adenosine Triphosphatases/genetics, Brain Stem/pathology, Cerebellar Neoplasms/genetics, Child, Preschool, Genetic Predisposition to Disease, Humans, Medulloblastoma/genetics, Moyamoya Disease/pathology, Necrosis/complications, Protons, Radiation Injuries/pathology, Ubiquitin-Protein Ligases/genetics",

author = "Klawinski, \{Darren M.\} and Cottrell, \{Catherine E.\} and Schieffer, \{Kathleen M.\} and Indyk, \{Justin A.\} and Kajal Gandhi and Mardis, \{Elaine R.\} and Rodriguez, \{Diana P.\} and Breneman, \{John C.\} and Osorio, \{Diana S.\}",

note = "{\textcopyright} 2023 Wiley Periodicals LLC.",

year = "2024",

month = jan,

doi = "10.1002/pbc.30739",

language = "English",

volume = "71",

pages = "e30739",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

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TY - JOUR

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 - Adenosine Triphosphatases/genetics

KW - Brain Stem/pathology

KW - Cerebellar Neoplasms/genetics

KW - Child, Preschool

KW - Genetic Predisposition to Disease

KW - Humans

KW - Medulloblastoma/genetics

KW - Moyamoya Disease/pathology

KW - Necrosis/complications

KW - Protons

KW - Radiation Injuries/pathology

KW - Ubiquitin-Protein Ligases/genetics

UR - https://www.scopus.com/pages/publications/85174622539

U2 - 10.1002/pbc.30739

DO - 10.1002/pbc.30739

M3 - Article

C2 - 37877896

AN - SCOPUS:85174622539

SN - 1545-5009

VL - 71

SP - e30739

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

Abstract

Keywords

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