title: Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient.
abstract: We report a familial adenomatous polyposis patient with a known truncating mutation on exon 15 of the APC gene who developed an invasive follicular thyroid cancer in addition to multiple intra-cranial and spinal desmoids. This combination of manifestations has not previously been recorded in the literature.
authors.affiliation: University of New South Wales, Sydney, NSW, Australia, g.butel-simoes@student.unsw.edu.au.
authors.forename: G I
authors.initials: GI
authors.lastname: Butel-Simoes
authors.forename: A D
authors.initials: AD
authors.lastname: Spigelman
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000209:etiology* / Q000473:pathology; D002648:Child; D005091:Exons / Q000235:genetics; D018222:Desmoid Tumors / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000209:etiology* / Q000473:pathology; D011379:Prognosis; D013964:Thyroid Neoplasms / Q000209:etiology* / Q000473:pathology
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein