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pubmed-article:15891929pubmed:abstractTextDysregulation 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.lld:pubmed
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pubmed-article:15891929pubmed:dateRevised2007-11-9lld:pubmed
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pubmed-article:15891929pubmed:articleTitleCommon mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region.lld:pubmed
pubmed-article:15891929pubmed:affiliationDepartment of Neuropathology, Friedrich-Alexander University Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany. rolf.buslei@neuropatho.imed.uni-erlangen.delld:pubmed
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pubmed-article:15891929pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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