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 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.