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01-07-2013 | Laboratory Investigation

BRAF alterations in pediatric low grade gliomas and mixed neuronal–glial tumors

Authors: Efthymios Dimitriadis, George A. Alexiou, Panagiota Tsotsou, Efthymia Simeonidi, Kalliopi Stefanaki, Amalia Patereli, Neofytos Prodromou, Nikolaos Pandis

Published in: Journal of Neuro-Oncology | Issue 3/2013

Abstract

Low grade astrocytomas are the most common brain tumor in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene that result in mitogen activated protein kinase pathway activation. Herewith, we investigated the genetic changes of BRAF in pediatric low grade gliomas and their relation to pathological findings and Ki-67 proliferation index. The results showed gene fusions between KIAA1549 and BRAF in 66.7 % of tumors. The majority involved the KIAA1549–BRAF exon 16-exon 9 variant. Fusion junction between KIAA1549 exon 15 and BRAF exon 9 was found in five tumors, in which the myxoid component was the predominant. This has not been previously reported. No significant correlation was found between specific KIAA1549 and BRAF fusion junctions and Ki-67 index. All of the samples included in this study were tested for the presence of the BRAF^V600E mutation, and no positive sample was found.

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Title: BRAF alterations in pediatric low grade gliomas and mixed neuronal–glial tumors
Authors: Efthymios Dimitriadis
George A. Alexiou
Panagiota Tsotsou
Efthymia Simeonidi
Kalliopi Stefanaki
Amalia Patereli
Neofytos Prodromou
Nikolaos Pandis
Publication date: 01-07-2013
Publisher: Springer US
Published in: Journal of Neuro-Oncology / Issue 3/2013
Print ISSN: 0167-594X
Electronic ISSN: 1573-7373
DOI: https://doi.org/10.1007/s11060-013-1131-5

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BRAF alterations in pediatric low grade gliomas and mixed neuronal–glial tumors

Abstract

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Abstract

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