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An epilepsy‐associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation
Author(s) -
Yamada Seiji,
Nobusawa Sumihito,
Yamazaki Tatsuya,
Teranishi Takao,
Watanabe Sadayoshi,
Murayama Kazuhiro,
Ohba Shigeo,
Okabe Asako,
Sakurai Kouhei,
Urano Makoto,
Tsukamoto Tetsuya,
Yokoo Hideaki,
Hirose Yuichi,
Abe Masato
Publication year - 2019
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/pin.12799
Subject(s) - pathology , pilocytic astrocytoma , ganglioglioma , biology , eosinophilic , fluorescence in situ hybridization , missense mutation , epilepsy , glioma , astrocytoma , mutation , medicine , cancer research , chromosome , genetics , gene , neuroscience
Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low‐grade gliomas. We report a case of GNT with rosette‐forming glioneuronal tumor, dysembryoplastic neuroepithelial tumor, and pilocytic astrocytoma‐like morphology harboring FGFR1 mutation. A 16‐year‐old female presented with absence seizures. Magnetic resonance imaging revealed a right temporal lobe mass with multinodular enhancement by gadolinium administration. The tumor was mostly composed of oligodendrocyte‐like cells (OLCs) with variable perinuclear haloes. Abundant Rosenthal fibers and eosinophilic granular bodies were identified. Neither mitotic figures nor areas of necrosis were seen. Focal neurocytic rosette features, involving ring‐like arrays of OLCs around eosinophilic cores, were observed. Direct sequencing showed a missense mutation in FGFR1 K656E, whereas FGFR1 N546K, PIK3CA , and BRAF V600E were intact. KIAA1549‐BRAF fusion was not detected by fluorescence in situ hybridization analysis.