Electroclinical characteristics, genetic findings, and complex epilepsy surgery outcomes in children with low-grade epilepsy-associated tumors: A comprehensive view.

内容摘要

To evaluate outcomes in relation to epilepsy characteristics and genetic findings in pediatric patients with isolated low-grade epilepsy-associated tumors (LEAT) and LEAT plus focal cortical dysplasia type IIIb (FCD IIIb) who underwent epilepsy surgery. Patients younger than 19 years at the time of surgery, with isolated LEAT or LEAT plus FCD IIIb, and a minimum follow-up of 2 years were included. Clinical, neuroimaging, EEG, neuropsychological, surgical, histopathological, and molecular-genetic data were analyzed. Outcomes and potential predictors were assessed across four domains: seizures, antiseizure medication (ASM) use, cognition (Full Scale Intelligence Quotient, FS-IQ), and postoperative surgical complications. Seventy-one children fulfilled the inclusion criteria. Fifty-one (71.8%) had drug-resistant epilepsy. LEAT plus FCD IIIb were more frequent (43/71, 60.6%) than isolated LEAT (28/71, 39.4%). Gangliogliomas were the most common tumor type (39/71, 54.9%), followed by dysembryoplastic neuroepithelial tumors (16/71, 22.5%). Genetic testing demonstrated internal tandem duplication of the FGFR1 gene in most isolated LEAT cases (OR 11.9, 95% CI 1.32-100, p = .02), while LEAT+FCD IIIb cases were more frequently negative (OR 3.8, 95% CI 1.3-10.9, p = .02). After a median 5.7-year follow-up, 64 patients (90.1%) were seizure-free, and 55 (77.5%) discontinued ASM. Earlier seizure onset, longer epilepsy duration, and a higher number of ASM correlated with lower pre- and postoperative FS-IQ. A postoperative FS-IQ gain of >15 points occurred in four patients (7.7%). Two patients (2.8%) had unexpected permanent deficits, and 10 (14.1%) had minor temporary deficits. Epilepsy surgery leads to high rates of freedom from seizures and ASM in pediatric patients with LEAT and LEAT + FCD IIIb. Early surgical intervention can be associated with higher pre- and postoperative FS-IQ. Molecular-genetic findings suggest distinct neoplastic and dysplastic entities of LEAT and LEAT plus FCD IIIb.