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H3F3A K27M Mutation in Pediatric CNS Tumors
A Marker for Diffuse High-Grade Astrocytomas

Gerrit H. Gielen MD, Marco Gessi MD, Jennifer Hammes, Christof M. Kramm MD, Andreas Waha PhD, Torsten Pietsch MD
DOI: http://dx.doi.org/10.1309/AJCPABOHBC33FVMO 345-349 First published online: 1 March 2013


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.

Key Words
  • Histone H3.3 mutations
  • Pediatric diffuse high-grade astrocytomas
  • Pyrosequencing
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