BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

J Clin Invest. 2008 May;118(5):1739-49. doi: 10.1172/JCI33656.

Abstract

The molecular pathogenesis of pediatric astrocytomas is still poorly understood. To further understand the genetic abnormalities associated with these tumors, we performed a genome-wide analysis of DNA copy number aberrations in pediatric low-grade astrocytomas by using array-based comparative genomic hybridization. Duplication of the BRAF protooncogene was the most frequent genomic aberration, and tumors with BRAF duplication showed significantly increased mRNA levels of BRAF and a downstream target, CCND1, as compared with tumors without duplication. Furthermore, denaturing HPLC showed that activating BRAF mutations were detected in some of the tumors without BRAF duplication. Similarly, a marked proportion of low-grade astrocytomas from adult patients also had BRAF duplication. Both the stable silencing of BRAF through shRNA lentiviral transduction and pharmacological inhibition of MEK1/2, the immediate downstream phosphorylation target of BRAF, blocked the proliferation and arrested the growth of cultured tumor cells derived from low-grade gliomas. Our findings implicate aberrant activation of the MAPK pathway due to gene duplication or mutation of BRAF as a molecular mechanism of pathogenesis in low-grade astrocytomas and suggest inhibition of the MAPK pathway as a potential treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Astrocytoma / enzymology*
  • Astrocytoma / genetics*
  • Astrocytoma / pathology
  • Brain Neoplasms / enzymology*
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Cell Cycle / physiology
  • Child
  • Chromosome Aberrations
  • Cyclin D
  • Cyclins / genetics
  • Cyclins / metabolism
  • Enzyme Activation
  • Enzyme Inhibitors / metabolism
  • Female
  • Gene Duplication*
  • Humans
  • MAP Kinase Signaling System / physiology*
  • Male
  • Microarray Analysis
  • Mitogen-Activated Protein Kinases / genetics
  • Mitogen-Activated Protein Kinases / metabolism*
  • Mutation
  • Nucleic Acid Hybridization / methods
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins B-raf / metabolism*

Substances

  • Cyclin D
  • Cyclins
  • Enzyme Inhibitors
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Mitogen-Activated Protein Kinases