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Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3′ APC mutation
  1. Alex Kartheusera,d,
  2. Corinne Walona,
  3. Sarah Westb,
  4. Cor Breukelc,
  5. Roger Detryd,
  6. Anne-Catherine Gribomonte,
  7. Tayebeh Hamzehloeib,
  8. Pierre Hoangf,
  9. Dominique Maiterf,
  10. Jacques Pringotg,
  11. Jacques Rahierh,
  12. P Meera Khanc,
  13. Ann Curtisb,
  14. John Burnb,
  15. Riccardo Foddec,
  16. Christine Verellen-Dumoulina
  1. aMedical Genetics Unit, Centre for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, bNorthern Genetics Service, Newcastle Upon Tyne, UK, cMGC-Department of Human Genetics, Leiden University, The Netherlands, dDepartment of Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 10 Avenue Hippocrate, B-1200 Brussels, Belgium, eDepartment of Ophthalmology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, fDepartment of Internal Medicine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium , gDepartment of Radiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, hDepartment of Pathology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
  1. Dr Kartheuser

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.

  • familial adenomatous polyposis
  • APC mutation
  • adrenal adenoma

https://doi.org/10.1136/jmg.36.1.65

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