In:
Neuropathology and Applied Neurobiology, Wiley, Vol. 40, No. 3 ( 2014-04), p. 337-344
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0305-1846
,
1365-2990
DOI:
10.1111/nan.2014.40.issue-3
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
80371-6
detail.hit.zdb_id:
2008293-9
