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A novel DNA methylation class of tumor within the central nervous system, the "neuroepithelial tumor (NET),  PATZ1  fusion-positive” has recently been identified in the literature, characterized by  EWSR1 - and  MN1-PATZ1  fusions. The cellular origin of this tumor type remains unknown, wavering between glioneuronal or mesenchymal (as round cell sarcomas with  EWSR1-PATZ1  of the soft tissue). Because of the low number of reported cases, this tumor type will not be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System (CNS). Herein, we report one case of a CNS tumor classified by DNA methylation analysis as NET- PATZ1  but harboring a novel  LARGE1-AFF2  fusion which has until now never been described in soft tissue or the CNS .  We compare its clinical, histopathological, immunophenotypical, and genetic features with those previously described in NET- PATZ1 . Interestingly, the current case presented histopathological (astroblastoma-like features, glioneuronal phenotype), clinical (with a favorable course), genetic (1p loss), and epigenetic (DNA-methylation profiling) similarities to previously reported cases of NET- PATZ1 . Our results added data suggesting that different histomolecular tumor subtypes seem to be included within the methylation class “NET,  PATZ1  fusion-positive”, including non  PATZ1  fusions, and that further cases are needed to better characterize them.

A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions