H3F3A K27M mutation in pediatric CNS tumors: a marker for diffuse high-grade astrocytomas

Am J Clin Pathol. 2013 Mar;139(3):345-9. doi: 10.1309/AJCPABOHBC33FVMO.

Abstract

Brain tumors are one of the most common childhood malignancies. Diffuse high-grade gliomas represent approximately 10% of pediatric brain tumors. Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors. We performed a pyrosequencing-based analysis for the identification of H3F3A codon 27 and codon 34 mutations in 338 pediatric brain tumors. The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. None of the other tumor entities showed H3F3A K27M mutation. Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms.

MeSH terms

  • Adolescent
  • Astrocytoma / genetics*
  • Astrocytoma / pathology
  • Biomarkers, Tumor / genetics*
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Histones / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Neoplasm Grading
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Biomarkers, Tumor
  • Histones