Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles

This study demonstrates that DNA methylation analyses are an additional method to classify CP into subtypes, and implicates a role of epigenetic mechanisms in the genesis of the respective CP variants

Annett Hölsken

2016

Scholarcy highlights

  • Craniopharyngiomas are rare epithelial tumors of the sellar region
  • BRAFV600E mutations were solely found in the papillary CP subgroup and were not detectable in adamantinomatous CP samples
  • The methylome fingerprints assigned DNA specimens to entity-specific groups; adaCP) matching perfectly with histology-based diagnosis, suggesting that they represent truly distinct biological entities
  • Integrative comparison of the papCP with the adaCP group based on differential gene expression and methylation revealed a distinct upregulation of Wnt- and SHH signaling pathway genes in adaCP
  • This study demonstrates that DNA methylation analyses are an additional method to classify CP into subtypes, and implicates a role of epigenetic mechanisms in the genesis of the respective CP variants
  • In order to verify and strengthen the above summarized molecular data and to reveal distinctive molecular characteristics that facilitate the diagnosis of both CP subtypes, we obtained CTNNB1 and BRAF mutational analysis as well as array-based gene expression and methylation profiling in one of the largest cohorts of human CP tissue samples published to date
  • Detection of tumor-specific signaling pathway activation enables the possibility of target-oriented intervention

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