Epilepsy-Associated Neuroepithelial Tumors and Surgical Outcomes

Epilepsy-associated neuroepithelial tumours represent a distinct group of low-grade glial and glio-neuronal neoplasms that manifest predominantly in children and young adults with drug-resistant focal seizures. The most common entities—ganglioglioma and dysembryoplastic neuroepithelial tumour—often arise in the temporal lobe and display a slow growth pattern juxtaposed with early onset epilepsy. Surgical resection remains the cornerstone of management, aiming both to achieve seizure freedom and to prevent tumour progression. Advances in molecular genetics and epigenetic profiling have revealed subgroups with distinct oncogenic drivers, clinical courses and recurrence risks. Integration of histopathology, genome sequencing and transcriptomics has sharpened classification, informed prognostic stratification and opened avenues for targeted therapies. Multidisciplinary preoperative evaluation—including high-resolution imaging, intraoperative cortical mapping and neuropsychological assessment—optimises resection of the epileptogenic zone while preserving cognitive function. Long-term follow-up underscores the importance of complete lesionectomy and tailored postoperative care to maximise seizure control and quality of life.

Research from Nature Portfolio

Recent studies have employed comparative lesion sequencing and phylogenomic analysis to elucidate the origins of satellite lesions in dysembryoplastic neuroepithelial tumours. These investigations demonstrate that satellite nodules and main tumour masses share FGFR1 driver alterations yet diverge early in oncogenesis, indicating multifocal tumour development. Recognition of true satellite foci has practical implications for surgical planning and margin assessment to reduce recurrence. In parallel, transcriptome profiling across long-term epilepsy-associated tumours has identified four discrete molecular subgroups with distinct signalling signatures. One subgroup exhibits MAPK-pathway activation and enrichment of BRAFV600E mutations, correlating with higher recurrence rates and malignant progression. Other subgroups reveal activation of STAT3/TGF-β, NOTCH/mTOR and neural function gene sets, each portending different clinical trajectories. These transcriptional signatures pave the way for integrated epileptological and oncological management algorithms.

Epilepsy-Associated Neuroepithelial Tumors and Surgical Outcomes publication trend

The graph below shows the total number of articles in epilepsy-associated neuroepithelial tumors and surgical outcomes across all publications each year (not limited to Nature Index journals).

Technical terms

Epileptogenic zone: the cortical region from which seizures originate and whose removal is necessary to achieve seizure freedom.

Ganglioglioma: a mixed neuronal and glial tumour often associated with chronic epilepsy and low malignant potential.

Dysembryoplastic neuroepithelial tumour (DNET): a benign glio-neuronal neoplasm characterised by a specific glioneuronal element and frequent drug-resistant seizures.

BRAFV600E mutation: a single-amino-acid substitution in the BRAF kinase that constitutively activates MAPK signalling and is common in certain epilepsy-associated tumours.

MAPK pathway: a key cellular signalling cascade involved in cell proliferation and differentiation, often dysregulated by oncogenic mutations in these tumours.

FGFR1 alteration: genetic variants or duplications of the fibroblast growth factor receptor 1 gene that drive tumour formation in DNET and related lesions.

References

1. Genomic analysis as a tool to infer disparate phylogenetic origins of dysembryoplastic neuroepithelial tumors and their satellite lesions. Scientific Reports (2023).
2. Long-term epilepsy-associated tumors: transcriptional signatures reflect clinical course. Scientific Reports (2020).
3. Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta Neuropathologica (2023).
4. Low-grade epilepsy-associated neuroepithelial tumors: Tumor spectrum and diagnosis based on genetic alterations. Frontiers in Neuroscience (2023).
5. Early Epilepsy Surgery in Benign Cerebral Tumors: Avoid Your ‘Low-Grade’ Becoming a ‘Long-Term’ Epilepsy-Associated Tumor. Journal of Clinical Medicine (2022).