[Surgical Pathological Features of Epileptogenic Brain Lesions: Cortical Dysplasia and Tumors]

Area of Science:

• Neuroscience
• Pathology
• Genetics

Context:

• Intractable epilepsy is frequently associated with brain lesions such as cortical dysplasia and tumors.
• Focal cortical dysplasia type II (FCDII) exhibits specific cytoarchitectural abnormalities, including dysmorphic neurons and balloon cells.
• FCDII is linked to somatic mutations within the mTOR pathway.

Purpose:

• To review the characteristics and molecular underpinnings of focal cortical dysplasia and neuronal/glioneuronal tumors.
• To highlight recent advancements in classifying subtypes and molecular profiles of these epilepsy-associated brain lesions.

Summary:

• Cortical dysplasia and tumors are primary brain lesions causing intractable epilepsy.
• Focal cortical dysplasia type II is defined by cellular abnormalities and linked to mTOR pathway mutations.
• Dysembryoplastic neuroepithelial tumors and gangliomas are common tumor types presenting with epilepsy.
• Emerging research is identifying diverse subtypes and molecular signatures for these conditions.

Impact:

• Improved understanding of the pathogenesis of epilepsy-associated brain lesions.
• Potential for developing targeted therapies based on molecular profiles.
• Enhanced diagnostic classification of cortical dysplasia and tumors.