Browsing by Author "Simon, IB"

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    Low-grade glioneuronal tumors with FGFR2 fusion resolve into a single epigenetic group corresponding to 'Polymorphous low-grade neuroepithelial tumor of the young'
    (Springer Verlag, 2021) Gupta, R; Lucas, CG; Wu, J; Barreto, J; Shah, K; Simon, IB; Casavilca-Zambrano, S; Brathwaite, C; Zhou, H; Caccamo, D; Gilani, A; Kleinschmidt-DeMasters, BK; Lee, JC, Perry, A; Clarke, JL; Chang, SM; Berger, MS; Solomon, DA
    Low-grade neuroepithelial tumors (LGNET) are a diverse group of neoplasms occurring most commonly in children and young adults, often associated with epilepsy and favorable clinical outcomes. They are composed of a spectrum of tumor entities with divergent clinicopathologic features including ganglioglioma, pilocytic astrocytoma, dysembryoplastic neuroepithelial tumor (DNT), rosette-forming glioneuronal tumor (RGNT), extraventricular neurocytoma (EVN), multinodular and vacuolating neuronal tumor (MVNT), polymorphous low-grade neuroepithelial tumor of the young (PLTNY), myxoid glioneuronal tumor (MGNT), diffuse leptomeningeal glioneuronal tumor (DLGNT), and papillary glioneuronal tumor (PGNT). However, histologically distinguishing between these different LGNET subtypes can be challenging, and molecular profiling is now recognized as critical for accurate classification. While some LGNET subtypes are defined by unique genetic alterations (e.g. PRKCA fusion in PGNT [4], PDGFRA p.K385L/I dinucleotide mutation in MGNT [9]) that can be used for definitive subtyping, other alterations such as BRAF mutation or fusion are nonspecific and can be seen in ganglioglioma, pilocytic astrocytoma, MVNT, and DLGNT [3, 10,11,12, 14]. FGFR1 is another promiscuous oncogene in LGNET with kinase domain tandem duplication, gene fusions (most often with TACC1 as the fusion partner), or hotspot missense mutations at one of two codons within the tyrosine kinase domain (p.N546 or p.K656) recurrently found in pilocytic astrocytoma, DNT, RGNT, and EVN [8, 12,13,14,15,16,17, 20]. Thus, additional ancillary methodologies such as DNA methylation profiling may be necessary for accurate classification of LGNET with either BRAF or FGFR1 alterations.