BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma
Article first published online: 13 MAR 2014
© 2013 British Neuropathological Society
Neuropathology and Applied Neurobiology
Volume 40, Issue 3, pages 337–344, April 2014
How to Cite
Koelsche, C., Sahm, F., Paulus, W., Mittelbronn, M., Giangaspero, F., Antonelli, M., Meyer, J., Lasitschka, F., von Deimling, A. and Reuss, D. (2014), BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. Neuropathology and Applied Neurobiology, 40: 337–344. doi: 10.1111/nan.12072
- Issue published online: 13 MAR 2014
- Article first published online: 13 MAR 2014
- Accepted manuscript online: 4 JUL 2013 05:40AM EST
- Manuscript Accepted: 1 JUL 2013
- Manuscript Received: 8 MAY 2013
- Deutsche Forschungsgemeinschaft. Grant Number: SFB 938/TP Z2
- BRAF V600E;
- desmoplastic infantile astrocytoma;
- desmoplastic infantile ganglioglioma;
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 V600E 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.
We collected a series of 18 DIAs/DIGs for testing BRAF V600E mutational status by BRAF V600E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for BRAF V600E mutation by pyrosequencing.
Three out of 18 DIAs/DIGs presented with VE1 binding. A considerable proportion of BRAF V600E 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 V600E mutation in two of three VE1-positive cases.
BRAF V600E mutation affects a subset of DIAs/DIGs and offers new therapeutic opportunities.