Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation

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Jain, Payal, Lea F. Surrey, Joshua Straka, Minjie Luo, Fumin Lin, Brian Harding, Adam C. Resnick, Phillip B. Storm, Anna Maria Buccoliero, Mariarita Santi, Marilyn M. Li, and Angela J. Waanders
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As a group, mixed neuronal-glial tumors (MNGTs) exhibit genetic variability, including stable genomes, whole chromo- some gains, BRAF-V600E, and FGFR1 mutations. While histologic criteria are described to distinguish MNGT types ganglioglioma (GG) and dysembryoplastic neuroepithelial tumor (DNT), non-specific features preclude confident classification in a high proportion of cases. Herein, we report the characterization of a novel FGFR2-INA fusion gene identified during clinical genomic profiling in two cases of MNGTs that could not be specifi- cally classified as GG or DNT.