Craniopharyngiomas of Adamantinomatous Type Harbor β-Catenin Gene Mutations

We showed that ␤-catenin gene mutations and ␤-catenin overexpression in craniopharyngiomas were frequently and exclusively present in the adamantinomatous variant

Shigeki Sekine

2011

Scholarcy highlights

  • Craniopharyngioma is a rare neoplasm occurring in the sellar region, comprising 3% of all intracranial tumors
  • Multiple chromosomal abnormalities have been reported in two cases, no specific genetic alterations have been described so far. ␤-Catenin is a submembranous component of the adherence junction, and it acts as a transcriptional activator of the Wnt signaling pathway
  • Sequencing analysis revealed ␤-catenin gene mutations in all 10 adamantinomatous craniopharyngiomas, whereas none were present in the 6 papillary craniopharyngiomas analyzed
  • Epithelial cell nests and mesenchymal cells were separately microdissected and subjected to polymerase chain reaction followed by direct sequencing
  • None of the papillary-type tumors harbored mutations, and all of them showed an exclusively membranous staining pattern as usually seen in nonneoplastic epithelial cells. ␤-Catenin gene mutations and overexpression of ␤-catenin are considered to be characteristics of adamantinomatous craniopharyngiomas
  • We showed that ␤-catenin gene mutations and ␤-catenin overexpression in craniopharyngiomas were frequently and exclusively present in the adamantinomatous variant

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