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

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

JOURNAL=Frontiers in Neurology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1419104

DOI=10.3389/fneur.2024.1419104

ISSN=1664-2295

ABSTRACT=<sec id="sec1"><title>Introduction</title><p>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.</p></sec><sec id="sec2"><title>Methods</title><p>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.</p></sec><sec id="sec3"><title>Results</title><p>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 <italic>BRAF</italic> 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 <italic>FGFR1</italic> 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 (<italic>BRAF</italic> V600E) than in Group 2 tumors (<italic>FGFR1</italic>).</p></sec><sec id="sec4"><title>Discussion</title><p>These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches.</p></sec>