- Molecular features of long-term epilepsy-associated tumors: focus on glioneuronal tumors
A.Y.N. Schouten-van Meeteren
- Award date
- 18 May 2016
- Number of pages
- Document type
- PhD thesis
- Faculty of Medicine (AMC-UvA)
Long-term epilepsy associated tumors (LEATs), including glioneuronal tumors (GNTs) such as ganglioglioma (GG) and dysembryoplastic neuroepithelial tumour (DNT), represent a common cause of epilepsy with onset in early life. LEATs are characterized by slowly growing, low grade cortically based tumors with a long history (2 years or more) of pharmacoresistant epilepsy. Due to the tendency of these tumors to arise at younger age, they can critically affect the daily quality of life because of the burden of a high seizure frequency.
The WHO classification is the current gold standard in diagnosing all gliomas and other CNS tumor entities. However, the growing spectrum of LEATs and their variable histomorphological appearance are not fully captured by the current WHO classification. The broad spectrum of histopathological phenotypes of these tumors might lead to ‘over-interpretation’ of classical tumor-associated features and might lead to an erroneous more aggressive therapeutic approach. Most LEATs are considered benign, displaying a mild biological behavior without bold risk of recurrence or malignant transformation. Furthermore, the wide variability of LEATs and the inconsistent use of histopathological terminology as published in the literature have made guidelines for neuropathological diagnosis of these entities extremely challenging.
The major aim of this thesis is to identify the molecular features of GNTs, focusing on GGs and DNTs. This thesis is divided into two major parts: 1) the molecular features of GNTs (chapter 2-3) and 2) ‘mTORopathies’: inflammation, cell injury and neurodegeneration (chapter 4-7).
- Research conducted at: Universiteit van Amsterdam
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