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: | eng | 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 | Publisher Place: | Oxford | 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. |
Organization Units (connected with the publication): | Erich und Gertrud Roggenbuck-Stiftung High Performance Computing |
ISSN: | 1365-2990 0305-1846 |
Publisher DOI: | 10.1111/nan.12777 |
Appears in Collections: | 3 - Publication references (without fulltext) |
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