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

Area of Science:

• Neurology
• Oncology
• Radiology

Background:

• Low-grade epilepsy-associated tumors are common in drug-resistant focal epilepsy.
• The link between neuroimaging and genetic mutations in these tumors is not well understood.

Purpose of the Study:

• To investigate the relationship between neuroimaging characteristics and genetic alterations in low-grade epilepsy-associated tumors.
• To identify genotype-specific neuroimaging patterns.

Main Methods:

• Retrospective analysis of 46 epilepsy patients with low-grade epilepsy-associated neuroepithelial tumors.
• Panel sequencing to identify genetic mutations.
• Classification of tumors into three neuroimaging groups based on specific features.

Main Results:

• Group 1 tumors (indistinct borders, specific T1/T2 signals) showed high sensitivity/specificity for BRAF V600E mutations.
• Group 2 tumors (sharp borders, different T1/T2 signals) were highly specific for FGFR1 mutations.
• Higher seizure-free rates were observed in Group 1 (BRAF V600E) compared to Group 2 (FGFR1) tumors.

Conclusions:

• Neuroimaging may predict tumor genotype pre-surgically.
• This could inform personalized treatment strategies for epilepsy patients.
• BRAF V600E and FGFR1 mutations have distinct neuroimaging appearances.