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

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...

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Veröffentlicht in:Neuropathology and applied neurobiology 2022-04, Vol.48 (3), p.e12777-n/a
Hauptverfasser: Dottermusch, Matthias, Schumann, Yannis, Kordes, Uwe, Hasselblatt, Martin, Neumann, Julia E.
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container_title Neuropathology and applied neurobiology
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creator Dottermusch, Matthias
Schumann, Yannis
Kordes, Uwe
Hasselblatt, Martin
Neumann, Julia E.
description 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.
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source Wiley Online Library Journals Frontfile Complete
subjects atypical teratoid/rhabdoid tumour
Central nervous system
DNA methylation
Epigenetics
low‐grade diffusely infiltrative tumour with INI1 deficiency
Methylation
NanoString GeoMx DSP
spatial molecular analysis
Transcriptomics
Tumors
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
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