Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma.
作者信息
Foss-Skiftesvik Jon, Mathiasen René, van Overeem Hansen Thomas, Wadt Karin, Schmiegelow Kjeld, Stoltze Ulrik Kristoffer
机构信息
Department of Neurosurgery, Rigshospitalet University Hospital, Blegdamsvej 9, Copenhagen, 2100, Denmark.
The Pediatric Oncology Research Laboratory, Rigshospitalet University Hospital, Copenhagen, Denmark.
出版信息
Acta Neuropathol Commun. 2023 Jun 12;11(1):94. doi: 10.1186/s40478-023-01594-x.
Abstract
摘要
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本文引用的文献
1
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
Acta Neuropathol Commun. 2022 Aug 25;10(1):123. doi: 10.1186/s40478-022-01429-1.
2
Incidence and survival of childhood central nervous system tumors in Denmark, 1997-2019.
Cancer Med. 2022 Jan;11(1):245-256. doi: 10.1002/cam4.4429. Epub 2021 Nov 19.
3
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.
4
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma.
World Neurosurg. 2018 Dec;120:125-128. doi: 10.1016/j.wneu.2018.08.203. Epub 2018 Sep 6.
5
The landscape of genomic alterations across childhood cancers.
Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28.
6
Germline Mutations in Predisposition Genes in Pediatric Cancer.
N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.
7
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26.
8
MRI findings in children with neurofibromatosis type 1: a prospective study.
Pediatr Radiol. 1996 Jul;26(7):478-87. doi: 10.1007/BF01377205.
9
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825-9. doi: 10.1073/pnas.88.17.7825.
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