IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom
Introduction Seizures are the most common initial symptom in patients with low-grade glioma and their occurrence strongly depends on the tumor location. The majority of low-grade gliomas reveal mutations in the genes encoding isocitrate-dehydrogenase 1 (IDH1) or 2 (IDH2). These mutations are associa...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2 January 2012
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| In: |
Seizure
Year: 2012, Jahrgang: 21, Heft: 3, Pages: 194-197 |
| ISSN: | 1532-2688 |
| DOI: | 10.1016/j.seizure.2011.12.007 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1016/j.seizure.2011.12.007 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1059131111003190 
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| Verfasserangaben: | Florian Stockhammer, Martin Misch, Hans-Joachim Helms, Ulrike Lengler, Friedrich Prall, Andreas von Deimling, Christian Hartmann |
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| 245 | 1 | 0 | |a IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom |c Florian Stockhammer, Martin Misch, Hans-Joachim Helms, Ulrike Lengler, Friedrich Prall, Andreas von Deimling, Christian Hartmann |
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| 520 | |a Introduction Seizures are the most common initial symptom in patients with low-grade glioma and their occurrence strongly depends on the tumor location. The majority of low-grade gliomas reveal mutations in the genes encoding isocitrate-dehydrogenase 1 (IDH1) or 2 (IDH2). These mutations are associated with metabolic changes that are potentially epileptogenic. We investigated the correlation between IDH1/2 mutations and tumor localization and seizure as the initial symptom. Materials and methods This retrospective study included patients with a diagnosis of WHO grade II astrocytoma and cortical infiltration and in whom initial symptoms were documented and biopsy tissue was available for IDH1/2 analysis. IDH1/2 mutation analysis was performed by direct sequencing or by immunohistochemistry with an antibody which detects mutated protein IDH1 R132H. Sequencing was carried out if immunohistochemistry was negative. IDH1/2 status was defined as mutated if either of these investigations were positive. Results Seventy-nine patients were included. IDH1 or IDH2 mutation was present in 63 (80%) patients who on average were younger than patients without IDH1/2 mutation (40 vs. 47 years, p=0.0331, t-test). IDH1/2 mutations were associated with frontal tumor location (p=0.0202). All 12 tumors in the insula revealed IDH1/2 mutations. Seizure as the initial symptom was recorded in 57 (72%) patients and was associated with IDH1 or IDH2 mutation by multivariate analysis (OR 22.563, p=0.0019). Conclusion In WHO grade II astrocytomas, IDH1/2 mutations mostly occur in tumors infiltrating the frontal lobe. Seizure as the initial symptom is associated with IDH1 or IDH2 mutation. | ||
| 650 | 4 | |a Astrocytoma | |
| 650 | 4 | |a Isocitrate-dehydrogenase | |
| 650 | 4 | |a Localization | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Seizure | |
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