論文

査読有り 筆頭著者 責任著者 国際誌
2019年6月

An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation.

Pathology international
  • Seiji Yamada
  • Sumihito Nobusawa
  • Tatsuya Yamazaki
  • Takao Teranishi
  • Sadayoshi Watanabe
  • Kazuhiro Murayama
  • Shigeo Ohba
  • Asako Okabe
  • Kouhei Sakurai
  • Makoto Urano
  • Tetsuya Tsukamoto
  • Hideaki Yokoo
  • Yuichi Hirose
  • Masato Abe
  • 全て表示

69
6
開始ページ
372
終了ページ
377
記述言語
英語
掲載種別
DOI
10.1111/pin.12799

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.

リンク情報
DOI
https://doi.org/10.1111/pin.12799
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31218776
ID情報
  • DOI : 10.1111/pin.12799
  • ISSN : 1320-5463
  • PubMed ID : 31218776

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