Chromatin Remodeling and Cancer
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Abstract
Abstract
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.
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@article{Mtais2026Observations,
title = {New Observations on a Low‐Grade Diffusely Infiltrative Tumour, SMARCB1 Mutant, Arguing for a New Tumour Type},
author = {Alice Métais and Giorgia Antonia Simboli and Marc Barritault and Fabrice Chrétien and Julien Masliah‐Planchon and Alessandro Moiraghi and Johan Pallud and Laure Thomas and Pierre Leblond and Alexandre Bani‐Sadr and Raphaël Saffroy and Arnault Tauziède‐Espariat and Alexandre Vasiljevic and Pascale Varlet},
journal = {Neuropathology and Applied Neurobiology},
year = {2026},
doi = {10.1111/nan.70098},
url = {https://doi.org/10.1111/nan.70098}
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