Alice Métais, Giorgia Antonia Simboli, Marc Barritault, Fabrice Chrétien, Julien Masliah‐Planchon, Alessandro Moiraghi, Johan Pallud, Laure Thomas, Pierre Leblond, Alexandre Bani‐Sadr, Raphaël Saffroy, Arnault Tauziède‐Espariat, Alexandre Vasiljevic, Pascale Varlet
Two new cases of low-grade diffusely infiltrative tumour (LGDIT), SMARCB1 mutant, are described in an 18-year-old and a 50-year-old male, both with supratentorial lesions, characteristic rhabdoid histology on a myxoid-collagenous background, and complete INI1 loss. Both tumours showed homozygous SMARCB1 deletion and clustered with previously reported LGDIT on t-SNE analysis, in proximity to ATRT-MYC. These observations reinforce the distinct clinicopathological profile of LGDIT and support its consideration as a provisional CNS tumour type.