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.
Neuropathol Appl Neurobiol
; 48(3): e12777, 2022 04.
Article
in En
| MEDLINE
| ID: mdl-34820878
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Teratoma
/
Central Nervous System Neoplasms
/
Rhabdoid Tumor
Limits:
Humans
Language:
En
Journal:
Neuropathol Appl Neurobiol
Year:
2022
Type:
Article
Affiliation country:
Germany