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- Title
BRAF V600 E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma.
- Authors
Koelsche, C.; Sahm, F.; Paulus, W.; Mittelbronn, M.; Giangaspero, F.; Antonelli, M.; Meyer, J.; Lasitschka, F.; Deimling, A.; Reuss, D.
- Abstract
Aims Desmoplastic infantile astrocytoma/ganglioglioma ( DIA/ DIG) is a rare primary neuroepithelial brain tumour typically affecting paediatric patients younger than 24 months. Knowledge about genetic alterations in DIA/ DIG is limited. However, a previous study on BRAF V600 E mutation in paediatric glioma revealed a BRAF mutation in one of two tested DIAs/ DIGs. The limited number of cases in that study did not allow any conclusion about mutation frequency of BRAF in this tumour entity. Methods We collected a series of 18 DIAs/ DIGs for testing BRAF V600 E mutational status by BRAF V600 E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for BRAF V600 E mutation by pyrosequencing. Results Three out of 18 DIAs/ DIGs presented with VE1 binding. A considerable proportion of BRAF V600 E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. Pyrosequencing confirmed BRAF V600 E mutation in two of three VE1-positive cases. Conclusion BRAF V600 E mutation affects a subset of DIAs/ DIGs and offers new therapeutic opportunities.
- Subjects
TUMORS; PEDIATRICS; CANCER cells; JUVENILE diseases; IMMUNOHISTOCHEMISTRY
- Publication
Neuropathology & Applied Neurobiology, 2014, Vol 40, Issue 3, p337
- ISSN
0305-1846
- Publication type
Article
- DOI
10.1111/nan.12072