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Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation

Lookup NU author(s): Dr Ann Curtis, Professor Sir John Burn

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Abstract

Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three of the four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex and late onset phenotype of FAP.


Publication metadata

Author(s): Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, Verellen-Dumoulin C

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 1999

Volume: 36

Issue: 1

Pages: 65-67

Print publication date: 01/01/1999

ISSN (print): 0022-2593

ISSN (electronic):

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jmg.36.1.65

DOI: 10.1136/jmg.36.1.65


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