Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213

Lin, Ting-Chun; Uchino, Haruto; Ito, Masaki; Yamaguchi, Shigeru; Ishi, Yukitomo; Fujimura, Miki

Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213

Lin, Ting-Chun; Uchino, Haruto; Ito, Masaki et al.

Child's nervous system, 2024, 40(11), 3873-3878

Permalink : https://hdl.handle.net/2115/96010

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アクセス権	open access
URI	https://hdl.handle.net/2115/96010
タイトル	Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213
著者	Lin, Ting-Chun ; Uchino, Haruto ; Ito, Masaki ; Yamaguchi, Shigeru ; Ishi, Yukitomo ; Fujimura, Miki
著者名 Lin, Ting-Chun
e-Rad_Researcher 40775144 著者名 Uchino, Haruto
e-Rad_Researcher 10399850 著者名 Ito, Masaki
著者名 Yamaguchi, Shigeru
e-Rad_Researcher 30812284 著者名 Ishi, Yukitomo
e-Rad_Researcher 00361098 著者名 Fujimura, Miki
言語	英語
キーワード	Moyamoya
	Proton beam
	Radiation
	RNF213
発行日	2024-08-21
出版者	Springer
収録物名	Child's nervous system
巻(号)	40(11)
ページ	3873-3878
抄録	The effects of RNF213, which leads to moyamoya disease susceptibility, on radiation-induced moyamoya syndrome (MMS) remain unknown. We report a case of MMS after proton beam therapy (PBT) was deployed to treat a brain tumor in a patient with an RNF213 polymorphism. An 8-year-old boy underwent whole ventricular and local PBT for a pineal germ cell tumor and was diagnosed with radiation-induced MMS 9 months later. He underwent right and left revascularization surgeries for cerebral hemodynamic compromise at 17- and 18-years of age, respectively. Genetic analysis revealed a heterozygous germline polymorphism RNF213 p.R4810K. This is the first report to suggest an association between RNF213 polymorphism and radiation-induced MMS.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s00381-024-06576-5
PISSN	0256-7040
EISSN	1433-0350
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s00381-024-06576-5