BRAF, GNAQ, and GNA11 mutations and copy number in pediatric low-grade glioma

Yosef Laviv, Helen Toledano, Shalom Michowiz, Olga Dratviman-Storobinsky, Yuval Turm, Suzana Fichman-Horn, Ella Kagnovski, Nitza Goldenberg-Cohen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Fifty-two samples of pediatric low-grade glioma (48 primary, 4 recurrent) were analyzed for BRAF copy number variation (digital PCR analysis, CopyCaller) and point mutations of BRAF V600E, and exon 5 Q209 in GNAQ, and GNA11, using the MALDI-TOF mass spectrometer with validation by direct sequencing. An increased BRAF copy number was found in 18/47 primary samples tested; 15 of them (83.3%) were pilocytic astrocytomas. A BRAF mutation was found in 3/48 primary tumors, all with a normal BRAF copy number and no GNAQ mutation. One sample had a GNAQ209 mutation (Q209P626) with a normal BRAF gene. ; none of the tumors had a GNA11Q209 mutation. Recurrent or progressive tumors, analyzed in four patients, had the same molecular genotype as their primary. Increased BRAF copy number and activating BRAF mutations may be involved in the development of low-grade glioma via overactivation of the Ras/Raf pathway. This is the first report of a mutation in GNAQ209 in pediatric low-grade glioma. Understanding the molecular mechanisms underlying glioma initiation and growth may assist in the development of targeted therapies.

Original languageEnglish
Pages (from-to)129-134
Number of pages6
JournalFEBS Open Bio
StatePublished - 2012


FundersFunder number
Israel Ministry of Health3-3741
Petach Tikva, Israel
Rabin Medical Center


    • BRAF mutation
    • Copy number variation
    • GNAQ/GNA11
    • Low-grade glioma
    • Pediatric


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