Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region

Acta Neuropathol. 2005 Jun;109(6):589-97. doi: 10.1007/s00401-005-1004-x. Epub 2005 May 13.

Abstract

Dysregulation of the Wnt signalling pathway contributes to developmental abnormalities and carcinogenesis of solid tumours. Here, we examined beta-catenin and adenomatous polyposis coli (APC) by mutational analysis in pituitary adenomas (n=60) and a large series of craniopharyngiomas (n=41). Furthermore, the expression pattern of beta-catenin was immunohistochemically analysed in a cohort of tumours and cysts of the sellar region including pituitary adenomas (n=58), craniopharyngiomas (n=57), arachnoidal cysts (n=8), Rathke's cleft cysts (n=10) and xanthogranulomas (n=6). Whereas APC mutations were not detectable in any tumour entity, beta-catenin mutations were present in 77% of craniopharyngiomas, exclusively of the adamantinomatous subtype. All mutations affected exon 3, which encodes the degradation targeting box of beta-catenin compatible with an accumulation of nuclear beta-catenin protein. In addition, a novel 81-bp deletion of this exonic region was detected in one case. Immunohistochemical analysis confirmed a shift from membrane-bound to nuclear accumulation of beta-catenin in 94% of the adamantinomatous tumours. Aberrant distribution patterns of beta-catenin were never observed in the other tumour entities under study. We conclude that beta-catenin mutations and/or nuclear accumulation serve as diagnostic hallmarks of the adamantinomatous variant, setting it apart from the papillary variant of craniopharyngioma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Base Sequence
  • Child
  • Child, Preschool
  • Craniopharyngioma / genetics*
  • Craniopharyngioma / metabolism
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, APC*
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Mutation
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / metabolism
  • Polymorphism, Single-Stranded Conformational
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sella Turcica / pathology*
  • Trans-Activators / genetics*
  • beta Catenin

Substances

  • CTNNB1 protein, human
  • Cytoskeletal Proteins
  • Trans-Activators
  • beta Catenin