Title: Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component
Authors: Dottermusch, Matthias
Schumann, Yannis 
Kordes, Uwe
Hasselblatt, Martin
Neumann, Julia E.
Language: en
Subject (DDC): DDC::000 Informatik, Informationswissenschaft, allgemeine Werke
DDC::500 Naturwissenschaften und Mathematik
Issue Date: 24-Nov-2021
Publisher: Wiley-Blackwell
Document Type: Article
Journal / Series / Working Paper (HSU): Neuropathology and Applied Neurobiology 
Page Start: 1
Page End: 6
Pages: 6
Publisher Place: Oxford
We performed spatial epigenetic and transcriptomic analyses of a highly unusual low-grade diffusely infiltrative tumour with INI1 deficiency (CNS LGDIT-INI1), which harboured a high-grade component corresponding to an atypical teratoid/rhabdoid tumour (AT/RT). Methylation profiles of both low-grade and high-grade components yielded high similarity with AT/RTs of the MYC subgroup, whereas RNA expression analyses revealed increased translational activity and MYC pathway activation in the high-grade component. Close follow-up of patients harbouring CNS LGDIT-INI1 is warranted.
Organization Units (connected with the publication): Deutsche Forschungsgemeinschaft (DFG) 
Erich und Gertrud Roggenbuck-Stiftung
High Performance Computing 
URL: https://api.elsevier.com/content/abstract/scopus_id/85120381111
ISSN: 03051846
DOI: 10.1111/nan.12777
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