An extracranial CNS presentation of the emerging “intracranial” mesenchymal tumor, FET: CREB-fusion positive

A novel histomolecular tumor, the “intracranial mesenchymal tumor (IMT), FET::CREB fusion-positive”, has recently been identified and added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System. One of the essential diagnostic criteria defined in this classification is the intracranial location of the tumor. Herein, we report a spinal case of IMT with a classical EWSR1::CREM fusion. We compare its clinical, histopathological, immunophenotypical, genetic and epigenetic features with those previously described in IMT, FET::CREB fusion-positive. The current case presented histopathological (epithelioid morphology with mucin-rich stroma, and expression of EMA and desmin), radiological (an extraparenchymal lobulated mass without dural tail), genetic (fusion implicating the EWSR1 and CREM genes), and epigenetic (DNA-methylation profiling) similarities to previously reported cases. This case constitutes the third “extracranial” observation of an IMT. Our results added data suggesting that the terminology “IMT, FET::CREB fusion-positive” is provisional and that further series of cases are needed to better characterize them.