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Article

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.

Acta neuropathologica communications - 25 Nov 2025

Goschzik Tobias, Yuan Mathias, Pfaff Elke, Müller Manuel E B, Mynarek Martin, Dörner Evelyn, Jones David T W, Pfister Stefan M, Rutkowski Stefan, Pietsch Torsten

Abstract excerpt

Previous studies have revealed four distinct epigenetic consensus pineoblastoma (PB) subtypes. The aim of this study was to confirm and further extend their respective genetic underpinnings. Cytogenetics of 83 PB were analyzed by high-resolution genome-wide molecular inversion probe analysis and methylation profiling. Seventy-nine cases were screened for mutations by next-generation DNA panel sequencing and for...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41291966
DOI: 10.1186/s40478-025-02140-7
PMCID: PMC12648887

Genes

DICER1
DROSHA
FOXR2
MYC
OTX2
RB1

Provenance

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