title: Familial adenomatous polyposis: not all masses are desmoids.
abstract: Familial adenomatous polyposis (FAP) is a multi-system disease characterised by the development of hundreds to thousands of colorectal adenomas which inevitably progress to carcinoma without treatment. It is commonly associated with extra colonic lesions including osteomas, epidermoid cysts and desmoid tumours. Desmoid tumours are troublesome due to their size and bulk and are a significant cause of morbidity and mortality in FAP. This series highlights three cases in which patients with FAP developed masses thought initially to be manifestations of the condition. Further investigation in fact demonstrated neurofibromatosis type 1 in all three patients. All masses in FAP patients cannot be assumed to be disease related (desmoid, osteoma, epidermoid cyst or carcinoma).
authors: The Polyposis Registry, St Mark's Hospital, Middlesex, Harrow, HA1 3UI, UK, jakesloane@hotmail.com.
authors: J
authors: J
authors: Sloane
authors: P
authors: P
authors: Ranchod
authors: G
authors: G
authors: Williams
authors: S K
authors: SK
authors: Clark
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D018222:Desmoid Tumors / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D010641:Phenotype; D011379:Prognosis; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D025601:Adenomatous Polyposis Coli Protein
references: Dis Colon Rectum. 2005 Aug;48(8):1528-34
references: 15906134
references: Fam Cancer. 2006;5(3):275-85; discussion 287-8
references: 16998673
references: Ann Surg Oncol. 2008 Sep;15(9):2439-50
references: 18612695
references: Cancer Res. 2003 Feb 15;63(4):752-5
references: 12591720
references: Science. 1991 Aug 9;253(5020):661-5
references: 1651562