BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. Issue 3 (April 2014)

• Record Type: Journal Article
• Authors: Koelsche, C.; Sahm, F.; Paulus, W.; Mittelbronn, M.; Giangaspero, F.; Antonelli, M.; Meyer, J.; Lasitschka, F.; von, A.; Reuss, D.
• Is Part Of: Neuropathology & applied neurobiology. Volume 40:Issue 3(2014)
• Page Start: 337
• Page End: 344
• Publication Date: 2014-04
• Subjects: Nervous system -- Diseases -- Pathology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/nan.12072
• Languages: English
• ISSNs: 0305-1846

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="nan12072-sec-0001" sec-type="section"> <title>Aims</title> <p>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 <italic>BRAF</italic> V600E mutation in paediatric glioma revealed a <italic>BRAF</italic> 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 <italic>BRAF</italic> in this tumour entity.</p> </sec> <sec id="nan12072-sec-0002" sec-type="section"> <title>Methods</title> <p>We collected a series of 18 DIAs/DIGs for testing <italic>BRAF</italic> V600E mutational status by BRAF V600E immunohistochemistry (clone VE1). Cases with sufficient DNA were tested for <italic>BRAF</italic> V600E mutation by pyrosequencing.</p> </sec> <sec id="nan12072-sec-0003" sec-type="section"> <title>Results</title> <p>Three out of 18 DIAs/DIGs presented with VE1 binding. A considerable proportion of <italic>BRAF</italic> 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 <italic>BRAF</italic> V600E mutation in two of three VE1‐positive cases.</p> </sec> <sec id="nan12072-sec-0004" sec-type="section"> <title>Conclusion</title> <p> <italic>BRAF</italic> V600E mutation affects a subset of DIAs/DIGs and offers new therapeutic opportunities.</p> </sec> </abstract>