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Erschienen in: Brain Tumor Pathology 3/2019

22.04.2019 | Case Report

High-grade glioneuronal tumor with an ARHGEF2NTRK1 fusion gene

verfasst von: Kazuhiko Kurozumi, Yoshiko Nakano, Joji Ishida, Takehiro Tanaka, Masatomo Doi, Junko Hirato, Akihiko Yoshida, Kana Washio, Akira Shimada, Takashi Kohno, Koichi Ichimura, Hiroyuki Yanai, Isao Date

Erschienen in: Brain Tumor Pathology | Ausgabe 3/2019

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Abstract

Here, we report a highly unusual case of high-grade glioneuronal tumor with a neurotrophic tropomyosin receptor kinase (NTRK) fusion gene. A 13-year-old girl presented with headache and vomiting and MRI detected two cystic lesions bilaterally in the frontal areas with surrounding edema. The left larger tumor was removed by left frontal craniotomy. The tumor was diagnosed as a high-grade glioneuronal tumor, unclassified. Methylation profiling classified it as a diffuse leptomeningeal glioneuronal tumor (DLGNT) with low confidence. This tumor showed genotypes frequently found in DLGNT such as 1p/19q codeletion without IDH mutation and, however, did not have the typical DLGNT clinical and histological features. RNA sequencing identified an ARHGEF2 (encoding Rho/Rac guanine nucleotide exchange factor 2)–NTRK1 fusion gene. The presence of recurrent NTRK fusion in glioneuronal tumors has an important implication in the clinical decision making and opens up a possibility of novel targeted therapy.
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Metadaten
Titel
High-grade glioneuronal tumor with an ARHGEF2–NTRK1 fusion gene
verfasst von
Kazuhiko Kurozumi
Yoshiko Nakano
Joji Ishida
Takehiro Tanaka
Masatomo Doi
Junko Hirato
Akihiko Yoshida
Kana Washio
Akira Shimada
Takashi Kohno
Koichi Ichimura
Hiroyuki Yanai
Isao Date
Publikationsdatum
22.04.2019
Verlag
Springer Singapore
Erschienen in
Brain Tumor Pathology / Ausgabe 3/2019
Print ISSN: 1433-7398
Elektronische ISSN: 1861-387X
DOI
https://doi.org/10.1007/s10014-019-00345-y

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