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01-12-2020 | Craniopharyngioma | Correspondence

Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene

Authors: Jeremy Passos, Mathilde Quidet, Afane Brahimi, Cathy Flament, Jean-Baptiste Gibier, Sabine Caron, Claude-Alain Maurage, Marie-Pierre Buisine, Romain Perbet

Published in: Acta Neuropathologica | Issue 6/2020

Excerpt

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]. …

Dahl NA, Pratt D, Camelo-Piragua S, Kumar-Sinha C, Mody RJ, Septer S et al (2019) Pediatric craniopharyngioma in association with familial adenomatous polyposis. Fam Cancer 18:327–330. https://doi.org/10.1007/s10689-019-00126-8CrossRefPubMedPubMedCentral

Gabel BC, Cleary DR, Martin JR, Khan U, Snyder V, Sang UH (2017) Unusual and rare locations for craniopharyngiomas: clinical significance and review of the literature. World Neurosurg 98:381–387. https://doi.org/10.1016/j.wneu.2016.10.134CrossRefPubMed

Gorelyshev A, Mazerkina N, Medvedeva O, Vasilyev E, Petrov V, Ryzhova M et al (2020) Second-hit APC mutation in a familial adamantinomatous craniopharyngioma. Neuro-Oncol. https://doi.org/10.1093/neuonc/noaa060CrossRefPubMedPubMedCentral

Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (2016) WHO classification of tumours of the central nervous system revised, 4th edn. IARC, Lyon

Talseth-Palmer BA (2017) The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 15:5. https://doi.org/10.1186/s13053-017-0065-xCrossRefPubMedPubMedCentral

Title: Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene
Authors: Jeremy Passos
Mathilde Quidet
Afane Brahimi
Cathy Flament
Jean-Baptiste Gibier
Sabine Caron
Claude-Alain Maurage
Marie-Pierre Buisine
Romain Perbet
Publication date: 01-12-2020
Publisher: Springer Berlin Heidelberg
Keywords: Craniopharyngioma
Familial Adenomatous Polyposis
Published in: Acta Neuropathologica / Issue 6/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-020-02232-9

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Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene

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