Artikel
IDH 1/2 mutations in astrocytomas WHO grade II: association with localization and seizure as initial symptom
Suche in Medline nach
Autoren
-
F. Stockhammer
- Klinik für Neurochirurgie, Universitätsmedizin Göttingen; Klinik für Neurochirurgie, Universitätsmedizin Rostock
-
M. Misch
- Klinik für Neurochirurgie, Charité - Universitätsmedizin Berlin
-
H.J. Helms
- Abteilung für medizinische Statistik, Universitätsmedizin Göttingen
-
U. Lengler
- Klinik für Psychiatrie, Universität Leipzig
-
F. Prall
- Institut für Pathologie, Universitätsmedizin Göttingen
-
A.V. Deimling
- Institut für Neuropathologie, Ruprecht-Karls-Universität Heidelberg; Klinische Kooperationseinheit G380, Deutsches Krebsforschungszentrum, Heidelberg, Deutschland
-
C. Hartmann
- Institut für Neuropathologie, Ruprecht-Karls-Universität Heidelberg; Klinische Kooperationseinheit G380, Deutsches Krebsforschungszentrum, Heidelberg, Deutschland
| Veröffentlicht: | 4. Juni 2012 |
|---|
Gliederung
Text
Objective: Seizures are the most common initial symptom in patients with low-grade gliomas and strongly depend on the site of the tumour. 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 might have epileptogenic potential. We investigated the correlation of IDH1/2 mutations with localization of the tumour and seizures as initial symptoms.
Methods: Patients with astrocytoma WHO grade II, cortical infiltration, filed initial symptom and available tissue for IDH1/2 analysis were included in this retrospective study. IDH1/2 mutation analysis was performed by direct sequencing or by immunohistochemistry with an antibody detecting mutated protein IDH1 R132H. In case of negative immunohistochemistry, sequencing was performed. IDH1/2 status was defined as mutated, if any of these investigations were positive.
Results: Seventy-nine patients were included. IDH1 or IDH2 mutation was present in 63 (80%) patients, which were in the mean younger than patients without IDH1/2 mutation (40 vs. 47 years, p = 0.0331, t-test). IDH1/2 mutations were associated to frontal tumour location (p = 0.0202). All 12 tumours in the insula revealed IDH1/2 mutations. Seizure as 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).
Conclusions: In astrocytomas WHO grade II IDH1/2 mutations mostly occur in tumours infiltrating the frontal lobe. Seizure as initial symptom is associated with IDH1 or IDH2 mutation.
