在耐药局灶性癫痫病例中,低度癫痫相关肿瘤是第二常见的组织病理学诊断。然而,这些肿瘤的神经影像学特征与遗传改变之间的联系尚不清楚,促使调查基因型相关的神经影像学特征。
■本研究回顾性分析了46例癫痫患者的神经影像学和手术标本,这些患者患有低度癫痫相关神经上皮肿瘤,这些肿瘤具有通过组测序鉴定的基因突变,以研究它们与基因型的关系。
■建立了三个不同的神经成像组:第1组边界模糊,T1加权和T2加权信号强度稍高或稍高,无弥漫性质量效应,对BRAFV600E突变的敏感性为93.8%,特异性为100%;第2组表现出明显的边界,T1加权和T2加权的信号强度非常或略低,对FGFR1突变具有弥漫性质量效应,敏感性和特异性为100%;第3组表现出多种特征.包括弥漫性低度神经胶质瘤和神经节胶质瘤在内的组织病理学诊断与基因型无明显关联。值得注意的是,第1组肿瘤(BRAFV600E)术后无癫痫发作率高于第2组肿瘤(FGFR1).
■这些研究结果表明,手术前神经影像学可以预测肿瘤基因型,为个性化治疗方法提供见解。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches.