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

Dottermusch, Matthias; Schumann, Yannis; Kordes, Uwe; Hasselblatt, Martin; Neumann, Julia E.

doi:10.1111/nan.12777

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

Publication date

2021-11-24

Document type

Research article

Author

Dottermusch, Matthias

Schumann, Yannis

Kordes, Uwe

Hasselblatt, Martin

Neumann, Julia E.

Organisational unit

Erich und Gertrud Roggenbuck-Stiftung

High Performance Computing

DOI

10.1111/nan.12777

URI

https://openhsu.ub.hsu-hh.de/handle/10.24405/14188

Scopus ID

2-s2.0-85120381111

Pubmed ID

34820878

Publisher

Wiley-Blackwell

Series or journal

Neuropathology and Applied Neurobiology

ISSN

0305-1846

1365-2990

First page

1

Last page

6

Peer-reviewed

✅

Part of the university bibliography

✅

Language

English

Abstract

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.

Version

Not applicable (or unknown)

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