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Acta Neuropathologica

, Volume 109, Issue 6, pp 589–597 | Cite as

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

  • Rolf BusleiEmail author
  • Michael Nolde
  • Bernd Hofmann
  • Stephan Meissner
  • Ilker Y. Eyupoglu
  • Florian Siebzehnrübl
  • Eric Hahnen
  • Jürgen Kreutzer
  • Rudolf Fahlbusch
Regular Paper

Abstract

Dysregulation of the Wnt signalling pathway contributes to developmental abnormalities and carcinogenesis of solid tumours. Here, we examined β-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 β-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, β-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 β-catenin compatible with an accumulation of nuclear β-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 β-catenin in 94% of the adamantinomatous tumours. Aberrant distribution patterns of β-catenin were never observed in the other tumour entities under study. We conclude that β-catenin mutations and/or nuclear accumulation serve as diagnostic hallmarks of the adamantinomatous variant, setting it apart from the papillary variant of craniopharyngioma.

Keywords

Wnt-signalling β-Catenin Nuclear accumulation Adenomatous polyposis coli Carcinogenesis 

Notes

Acknowledgments

We thank Dr. I. Blümcke (University of Erlangen, Germany) and Dr. A. Koch (University of Bonn, Germany) for helpful discussions. We thank V. Schmidt, S. Gutmann and B. Rings for expert technical assistance. The work is supported by ELAN and Marohn funds from the University of Erlangen Medical Faculty.

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Rolf Buslei
    • 1
    Email author
  • Michael Nolde
    • 1
  • Bernd Hofmann
    • 2
  • Stephan Meissner
    • 1
  • Ilker Y. Eyupoglu
    • 2
  • Florian Siebzehnrübl
    • 1
  • Eric Hahnen
    • 1
    • 3
  • Jürgen Kreutzer
    • 2
  • Rudolf Fahlbusch
    • 2
  1. 1.Department of NeuropathologyFriedrich-Alexander University Erlangen-NurembergErlangenGermany
  2. 2.Department of NeurosurgeryFriedrich-Alexander University Erlangen-NurembergErlangenGermany
  3. 3.Department of Human GeneticsUniversity CologneKölnGermany

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