Desmoplastic myxoid tumor of pineal region, SMARCB1-mutant, in young adult.

• DOI: 10.17879/freeneuropathology-2021-3340
• Publication Date: 2021-01-01
• Authors: Branavan Manoranjan; Yves Starreveld; Robert Nordal; Christopher Dunham; Susanne Bens; Christian Thomas; Martin Hasselblatt; Jeffrey T. Joseph
• Keywords: SMARCB1

We present a young adult woman who developed myxoid tumor of the pineal region having SMARCB1 mutation, which was phenotypically similar to recently described desmoplastic myxoid, SMARCB1-mutant (DMT-SMARCB1). The 24-year-old presented with headaches, nausea, and emesis. Neuroimaging identified hypodense lesion in CT scans that T1-hypointense, hyperintense both T2-weighted FLAIR MRI scans, displayed gadolinium enhancement. resected had an abundant, Alcian-blue positive matrix interspersed, non-neoplastic neuropil-glial-vascular elements. It immunoreacted CD34 individual cells for EMA. Immunohistochemistry revealed loss nuclear INI1 expression by component but its retention vascular Molecular analyses deletion DNA methylation studies showed this grouped together DMT-SMARCB1. A cerebrospinal fluid cytologic preparation several morphologically those routine electron microscopy. briefly discuss correlation pathology radiology how compares other tumors nervous system.