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. 2023 Jun 12;11(1):94.
doi: 10.1186/s40478-023-01594-x.

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

Jon Foss-Skiftesvik  1   2   3 , René Mathiasen  4   5   6 , Thomas van Overeem Hansen  5   7 , Karin Wadt  5   7 , Kjeld Schmiegelow  4   5   6 , Ulrik Kristoffer Stoltze  4   5   7
Affiliations

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

Jon Foss-Skiftesvik et al. Acta Neuropathol Commun. .
No abstract available

Keywords: Ependymoma; Genetic predisposition; Germline; Sequencing; Tumor methylation profiling.

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Conflict of interest statement

None to declare.

Figures

Fig. 1
Fig. 1
Overview of diagnostic reclassification of original histopathological ependymoma diagnoses following tumor methylation profiling. In Sturm et al.’s study, six additional children were reclassified from other non-ependymoma tumor types to ependymoma following tumor methylation profiling (not shown). Targeted germline sequencing was performed for five without detection of pathogenic variants. Adapted from Foss-Skiftesvik et al. Acta Neuropathologica Communications(2022) 10:123, https://doi.org/10.1186/s40478-022-01429-1 with permission under the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). Created with BioRender.com
See this image and copyright information in PMC

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