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