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The article discusses a case of a pediatric supratentorial tumor with carcinoma-like epithelial features, classified as MN1-altered astroblastoma by DNA methylation profiling. The tumor exhibited a TCF3::BEND2 fusion, which is uncommon in CNS tumors. The study highlights the importance of BEND2 in tumorigenesis and suggests that further research is needed to understand the biological and clinical implications of different fusions in CNS tumors. [Extracted from the article]

Introduction: Low-grade epilepsy-associated tumors are the second most common histopathological diagnoses in cases of drug-resistant focal epilepsy. However, the connection between neuroimaging features and genetic alterations in these tumors is unclear, prompting an investigation into genotype-relevant neuroimaging characteristics., Methods: This study retrospectively analyzed neuroimaging and surgical specimens from 46 epilepsy patients with low-grade epilepsy-associated neuroepithelial tumors that had genetic mutations identified through panel sequencing to investigate their relationship to genotypes., Results: Three distinct neuroimaging groups were established: Group 1 had indistinct borders and iso T1-weighted and slightly high or high T2-weighted signal intensities without a diffuse mass effect, associated with 93.8% sensitivity and 100% specificity to BRAF V600E mutations; Group 2 exhibited sharp borders and very or slightly low T1-weighted and very high T2-weighted signal intensities with a diffuse mass effect and 100% sensitivity and specificity for FGFR1 mutations; and Group 3 displayed various characteristics. Histopathological diagnoses including diffuse low-grade glioma and ganglioglioma showed no clear association with genotypes. Notably, postoperative seizure-free rates were higher in Group 1 tumors ( BRAF V600E) than in Group 2 tumors ( FGFR1 )., Discussion: These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Iijima, Fujii, Suzuki, Murayama, Goto, Saito, Sano, Suzuki, Miyata, Kimura, Nakashima, Suzuki, Iwasaki and Sato.)