Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC
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Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene Jeremy Passos1 · Mathilde Quidet2 · Afane Brahimi3 · Cathy Flament4 · Jean‑Baptiste Gibier1 · Sabine Caron5 · Claude‑Alain Maurage1,6 · Marie‑Pierre Buisine4 · Romain Perbet1,6 Received: 31 July 2020 / Revised: 29 September 2020 / Accepted: 29 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Craniopharyngioma is a benign epithelial tumour with two variants (adamantinomatous and papillary) developing typically in the suprasellar/parasellar region [4]. Unusual locations, such as the cerebellopontine angle, have been reported [4]. Posterior fossa craniopharyngiomas without any recurrence/extension or primary tumour in the sellar region are uncommon, with only 20 reported cases [1–3]: fourteen adamantinomatous cases, three papillary cases, and three of unspecified subtype. Interestingly, six of these patients, all with an adamantinomatous-subtype tumour located in the cerebellopontine angle, had familial adenomatous polyposis (FAP) [1–3]. Most adamantinomatous craniopharyngiomas (ACs) show a mutation in the CTNNB1 gene (MIM *116806, catenin beta-1) leading to nuclear accumulation of β-catenin and activation of the Wnt signaling pathway [4]. In FAP tumours, interestingly, this pathway is often activated in another way: through inactivation of both alleles of the APC gene (MIM *611731 adenomatous polyposis coli). The wildtype APC gene encodes a protein acting as a negative regulator of canonical Wnt signaling, via binding to cytosolic β-catenin to form part of a degradation complex promoting phosphorylation of β-catenin and its degradation by the Marie-Pierre Buisine and Romain Perbet have equally contributed. * Romain Perbet [email protected] 1
Institute of Pathology, CHU Lille, 59000 Lille, France
2
Department of Neurosurgery, CHU Lille, 59000 Lille, France
3
Department of Clinical Genetics, CHU Lille, 59000 Lille, France
4
Department of Biochemistry and Molecular Biology, CHU Lille, 59000 Lille, France
5
Department Neuroradiology, CHU Lille, 59000 Lille, France
6
LilNCog, Lille Neuroscience and Cognition, Univ. Lille, Inserm, CHU Lille, U1172, 59000 Lille, France
proteasome. Loss of this tumour-suppressor function leads to intranuclear accumulation of β-catenin, causing constitutive activation of the Wnt signaling pathway [1, 3, 5]. Although this pathway is activated in both ACs and FAPassociated tumours, ACs are not known to be part of the FAP spectrum. Nine cases of craniopharyngioma arising in patients with FAP have been reported [1–3], all of them occurring in young people. Six were ectopic (in the cerebellopontine angle) and three were in the sellar region. As in the six ectopic cases, the Wnt-pathway-activating mechanism was unknown and no association between FAP and ectopic AC was demonstrated. In one case of FAP-associated sellarregion AC, whole exome sequencing identified a CTNNB1activating point mutation and a germ
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