Molecular Characteristics of a ZFTA::RELA Fusion Gliosarcoma: A Case Report.

Abstract

The combination of ependymoma and gliosarcoma elements in the same tumor is extremely rare, and the molecular characteristics of these entities are not clear. Here, we present a rare aggressive brain tumor in a 12-year-old boy harboring a ZFTA::RELA gene fusion, a characteristic feature of supratentorial ependymomas. On the other hand, the histopathological, molecular, and methylation profiles were compatible with a diagnosis of a mesenchymal type, IDH wild-type glioblastoma multiforme (GBM). Additional somatic alterations provide evidence of RAS/MAPK signaling pathway activation. Overall, this report highlights the histopathological and molecular characteristics of a rare and aggressive glial tumor.