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

Buslei, R., Nolde, M., Hofmann, B., Meissner, S., Eyupoglu, I. Y., Siebzehnrubl, Florian ORCID: https://orcid.org/0000-0001-8411-8775, Hahnen, E., Kreutzer, J. and Fahlbusch, R. 2005. Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region. Acta Neuropathologica 109 (6) , pp. 589-597.

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
European Cancer Stem Cell Research Institute (ECSCRI)
Publisher: Springer
ISSN: 0001-6322
Last Modified: 25 Oct 2022 10:12
URI: https://orca.cardiff.ac.uk/id/eprint/61409

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