BRAF V 600 E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma

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 V 600 E mutation in paedia...

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Published in:Neuropathology and applied neurobiology 2014-04, Vol.40 (3), p.337-344
Main Authors: Koelsche, C., Sahm, F., Paulus, W., Mittelbronn, M., Giangaspero, F., Antonelli, M., Meyer, J., Lasitschka, F., von Deimling, A., Reuss, D.
Format: Article
Language:English
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Summary: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 V 600 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 V 600 E mutational status by BRAF V 600 E immunohistochemistry (clone VE 1). Cases with sufficient DNA were tested for BRAF V 600 E mutation by pyrosequencing. Results Three out of 18 DIAs / DIGs presented with VE 1 binding. A considerable proportion of BRAF V 600 E mutated tumour cells was detected in the cortical tumour component, whereas the pronounced leptomeningeal tumoural stroma was predominantly negative for VE 1 binding. Pyrosequencing confirmed BRAF V 600 E mutation in two of three VE 1‐positive cases. Conclusion BRAF V 600 E mutation affects a subset of DIAs / DIGs and offers new therapeutic opportunities.
ISSN:0305-1846
1365-2990
DOI:10.1111/nan.12072