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
Organisational unit
Erich und Gertrud Roggenbuck-Stiftung
Scopus ID
Pubmed ID
Series or journal
Neuropathology and Applied Neurobiology
First page
1
Last page
6
Peer-reviewed
✅
Part of the university bibliography
✅
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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