Case report uncovers a putative BRAF fusion in a central nervous system mesenchymal tumor, highlighting alternative MAPK pathway drivers in non-meningothelial neoplasms.
Key Points
Characterize the clinicopathological and molecular profile of an unclassifiable supratentorial non-meningothelial mesenchymal tumor.
Evaluated a parasagittal mass resected from a 40-year-old male presenting with progressive left-sided paresthesia (N=1).
Performed histological analysis, CD99 immunohistochemistry, and fluorescence in situ hybridization targeting EWSR1, FUS, and CIC loci.
Conducted extended RNA-based next-generation sequencing to identify non-canonical oncogenic fusions.
Histology demonstrated a myxoid proliferation with focal cortical and dural infiltration, accompanied by isolated focal CD99 positivity.
Fluorescence in situ hybridization excluded diagnostic rearrangements involving EWSR1, FUS, and CIC.