Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors

低度癫痫相关肿瘤的基因型相关神经影像学特征

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作者:Keiya Iijima, Hiroyuki Fujii, Fumio Suzuki, Kumiko Murayama, Yu-Ichi Goto, Yuko Saito, Terunori Sano, Hiroyoshi Suzuki, Hajime Miyata, Yukio Kimura, Takuma Nakashima, Hiromichi Suzuki, Masaki Iwasaki, Noriko Sato

Discussion

These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches.

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).

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