Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas

Margaret J. Dougherty, Mariarita Santi, Marcia S. Brose, Changqing Ma, Adam C. Resnick, Angela Jae Waanders, Phillip B. Storm, Jaclyn A. Biegel

Research output: Contribution to journalArticlepeer-review

232 Scopus citations


In the present study, DNA from 27 grade I and grade II pediatric gliomas, including ganglioglioma, desmoplastic infantile ganglioglioma, dysembryoplastic neuroepithelial tumor, and pleomorphic xanthoastrocytoma was analyzed using the Illumina 610K Beadchip SNPbased oligonucleotide array. Several consistent abnormalities, including gain of chromosome 7 and loss of 9p21 were observed. Based on our previous studies, in which we demonstrated BRAF mutations in 3 gangliogliomas, 31 tumors were screened for activating mutations in exons 11 and 15 of the BRAF oncogene or a KIAA1549-BRAF fusion product. There were no cases with a KIAA1549-BRAF fusion. A BRAF V600E mutation was detected in 14 of 31 tumors, which was not correlated with any consistent pattern of aberrations detected by the SNP array analysis. Tumors were also screened for mutations in codon 132 in exon 4 of IDH1, exons 2 and 3 of KRAS, and exons 2-9 of TP53. No mutations in KRAS or TP53 were identified in any of the samples, and there was only 1 IDH1 R132H mutation detected among the sample set. BRAF mutations constitute a major genetic alteration in this histologic group of pediatric brain tumors and may serve as a molecular target for biologically based inhibitors.

Original languageEnglish (US)
Pages (from-to)621-630
Number of pages10
Issue number7
StatePublished - Jul 2010


  • BRAF
  • Desmoplastic infantile ganglioglioma
  • Dysembryoplastic neuroepithelial tumor
  • Ganglioglioma
  • Pleomorphic xanthoastrocytoma
  • SNP array

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research


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