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Case Reports
. 2024 Aug 21;148(1):26.
doi: 10.1007/s00401-024-02779-x.

FGFR1 wild-type rosette-forming glioneuronal tumours

Affiliations
Case Reports

FGFR1 wild-type rosette-forming glioneuronal tumours

Mégane Le Quang et al. Acta Neuropathol. .
No abstract available

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Figures

Fig. 1
Fig. 1
MRI on the T1 sequence revealed well-circumscribed lesions with heterogeneous gadolinium enhancement located in the third ventricle obstructing the two interventricular foramens and invading the basal cisterns in case 1 (a), in the fourth ventricle in case 2 (d) and in the right mesencephalon in case 3 (g). Haematoxylin and eosin (HE) staining showed characteristic neurocytic rosettes viewed longitudinally, with a columnar arrangement in this small biopsy in case 1 (b), a biphasic proliferation with neurocytic rosettes (left) and piloid features (right) in case 2 (e) and rosettes with various size and shapes in case 3 (h). Cell staining for synaptophysin was diffuse and strong in case 1 (c), more heterogeneous in cases 2 (f) and 3 (i). Zoom on t-SNE using idat files freely available on GEO (publication PMID: 29539639) enhanced with personal data on extraventricular neurocytomas (EVN) (j). Schematic representation of KIF5B-ERBB4 fusions in case 1 and in the lung adenocarcinoma described by Guenzi et al. [6] (top) compared to the KIF5B-NTRK2 fusion reported in extraventricular neurocytoma by Gubbiotti et al. [5] (bottom) (k)

References

    1. Appay R, Bielle F, Sievers P, Barets D, Fina F, Boutonnat J et al (2022) Rosette-forming glioneuronal tumours are midline, FGFR1-mutated tumours. Neuropathol Appl Neurobiol 48(5):e12813. 10.1111/nan.12813 10.1111/nan.12813 - DOI - PubMed
    1. Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM et al (2007) A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. Nature 448(7152):439–344. 10.1038/nature05933 10.1038/nature05933 - DOI - PubMed
    1. Davies BR, Guan N, Logie A, Crafter C, Hanson L, Jacobs V et al (2015) Tumors with AKT1E17K mutations are rational targets for single agent or combination therapy with AKT inhibitors. Mol Cancer Ther 14(11):2441–2451. 10.1158/1535-7163.MCT-15-0230 10.1158/1535-7163.MCT-15-0230 - DOI - PubMed
    1. Gow CH, Liu YN, Li HY, Hsieh MS, Chang SH, Luo SC et al (2018) Oncogenic function of a KIF5B-MET fusion variant in non-small cell lung cancer. Neoplasia 20(8):838–847. 10.1016/j.neo.2018.06.007 10.1016/j.neo.2018.06.007 - DOI - PMC - PubMed
    1. Gubbiotti MA, Santi M, Storm PB, Li M, Xu F, Abdullaev Z et al (2023) First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma. J Neuropathol Exp Neurol 82(3):272–275. 10.1093/jnen/nlad002 10.1093/jnen/nlad002 - DOI - PMC - PubMed

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