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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
Author(s) -
Dottermusch Matthias,
Schumann Yannis,
Kordes Uwe,
Hasselblatt Martin,
Neumann Julia E.
Publication year - 2022
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12777
Subject(s) - pathology , central nervous system , atypical teratoid rhabdoid tumor , biology , transcriptome , immunohistochemistry , epigenetics , medicine , gene expression , gene , neuroscience , genetics
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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