Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.
Child, Preschool
Humans
Adenosine Triphosphatases
/ genetics
Brain Stem
/ pathology
Cerebellar Neoplasms
/ genetics
Genetic Predisposition to Disease
Medulloblastoma
/ genetics
Moyamoya Disease
/ pathology
Necrosis
/ complications
Protons
Radiation Injuries
/ pathology
Ubiquitin-Protein Ligases
/ genetics
brainstem
necrosis
radiation
vasculopathy
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
revised:
28
09
2023
received:
07
02
2023
accepted:
09
10
2023
medline:
24
11
2023
pubmed:
25
10
2023
entrez:
25
10
2023
Statut:
ppublish
Résumé
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.
Substances chimiques
Adenosine Triphosphatases
EC 3.6.1.-
Protons
0
RNF213 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e30739Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Zhuang H, Zheng Y, Wang J, et al. Analysis of risk and predictors of brain radiation necrosis after radiosurgery. Oncotarget. 2015;7(7):7773-7779.
Ruben JD, Dally M, Bailey M, et al. Cerebral radiation necrosis: incidence, outcomes, and risk factors with emphasis on radiation parameters and chemotherapy. Int J Radiat Oncol Biol Phys. 2006;65(2):499-508.
Leary SES, Packer RJ, Li Y, et al. Efficacy of carboplatin and isotretinoin in children with high-risk medulloblastoma: a randomized clinical trial from the Children's Oncology Group. JAMA Oncol. 2021;7(9):1313-1321.
Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443.
Liu W, Morito D, Takashima S, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One. 2011;6(7):e22542.
Devine CA, Liu KX, Loakeim-Ioannidou M, et al. Brainstem injury in pediatric patients receiving posterior fossa photon radiation. Int J Radiat Oncol Biol Phys. 2019;105(5):1034-1042.
Gentile MS, Yeap BY, Paganetti H, et al. Brainstem injury in pediatric patients with posterior fossa tumors treated with proton beam therapy and associated dosimetric factors. Int J Radiat Oncol Biol Phys. 2018;100(3):719-729.
Vogel J, Grewal A, O'Reilly S, et al. Risk of brainstem necrosis in pediatric patients with central nervous system malignancies after pencil beam scanning proton therapy. Acta Oncol. 2019;58(12):1752-1756.
Indelicato DJ, Flampouri S, Rotondo RL, et al. Incidence and dosimetric parameters of pediatric brainstem toxicity following proton therapy. Acta Oncol. 2014;53(10):1298-1304.
Yock TI, Constine LS, Mahajan A. Protons, the brainstem, and toxicity: ingredients for an emerging dialectic. Acta Oncol. 2014;53(10):1279-1282.
Watterson J, Simonton SC, Rorke LB, et al. Fatal brain stem necrosis after standard posterior fossa radiation and aggressive chemotherapy for metastatic medulloblastoma. Cancer. 1993;71(12):4111-4117.
Guey S, Kraemer M, Hervé D, et al. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in caucasians. Eur J Hum Genet. 2017;25(8):995-1003.
Park MG, Shin JH, Lee SW, et al. RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans. J Neurol Sci. 2017;375:331-334.
Lin J, Sheng W. RNF213 variant diversity predisposes distinct populations to dissimilar cerebrovascular diseases. Biomed Res Int. 2018;2018:6359174. doi:10.1155/2018/6359174
Zhou S, Ambalavanan A, Rochefort D, et al. RNF213 is associated with intracranial aneurysms in the French-Canadian population. Am J Hum Genet. 2016;99(5):1072-1085.
Wen J, Sun X, Chen H, et al. Mutation of rnf213a by TALEN causes abnormal angiogenesis and circulation defects in zebrafish. Brain Res. 2016;1644:70-78.
Hitomi T, Habu T, Kobayashi H, et al. Downregulartion of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients. Biochem Biophys Res Commun. 2013;438:13-19.
Ohkubo K, Sakai Y, Inove H, et al. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep. 2015;5:13191.
Yahyapour R, Amini P, Rezapour S, et al. Radiation-induced inflammation and autoimmune diseases. Mil Med Res. 2018;5(1):9.
Najafi M, Shirazi A, Motevaseli E, et al. The melatonin immunomodulatory actions in radiotherapy. Biophys Rev. 2017;9(2):139-148.
Hoffmeister PA, Storer BE, Sanders JE. Diabetes mellitus in long-term survivors of pediatric hematopoietic cell transplantation. J Pediatr Hematol Oncol. 2004;26(2):81-90.
Baker KS, Ness KK, Steinberger J, et al. Diabetes, hypertension, and cardiovascular events in survivors of hematopoietic cell transplantation: a report from the bone marrow transplantation survivor study. Blood. 2007;109(4):1765-1772.
Wei C, Thyagiarajan M, Hunt L, et al. Reduced beta-cell reserve and pancreatic volume in survivors of childhood acute lymphoblastic leukaemia treated with bone marrow transplantation and total body irradiation. Clin Endocrinol (Oxf). 2015;82(1):59-67.
Oslowski CM, Hara T, O'Sullivan-Murphy B, et al. Thioredoxin-interacting protein mediates ER stress-induced β cell death through initiation of the inflammasome. Cell Metab. 2012;16(2):265-273.