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Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma
  1. J D Trimbath1,
  2. C Griffin2,
  3. K Romans3,
  4. F M Giardiello4
  1. 1Department of Medicine, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
  2. 2Department of Pathology, and Sidney Kimmel Comprehensive Cancer Center, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
  3. 3Sidney Kimmel Comprehensive Cancer Center, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
  4. 4Departments of Medicine and Pathology, and Sidney Kimmel Comprehensive Cancer Center, the Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
  1. Correspondence to:
    J D Trimbath, the Johns Hopkins Hospital, 550 North Broadway, Suite 108, Baltimore, MD 21205, USA;
    jtrimba1{at}jhmi.edu

Abstract

The risk of periampullary cancer in patients with classic familial adenomatous polyposis (FAP) is significantly increased compared with the general population. However, the incidence of this extracolonic manifestation in attenuated FAP (AFAP) is unknown. We report the case of a 38 year old woman with no known family history of polyposis or colorectal cancer, who presented with ampullary adenocarcinoma. Diagnosis of AFAP was made only after evaluation of the patient’s extended family history and genetic testing. This case report suggests that AFAP should be included in the differential diagnosis of patients with ampullary/duodenal tumours.

  • APC gene
  • attenuated familial adenomatous polyposis
  • ampullary adenocarcinoma
  • duodenal cancer
  • FAP, familial adenomatous polyposis
  • HNPCC, hereditary non-polyposis colorectal cancer
  • PJS, Peutz-Jeghers syndrome
  • AFAP, attenuated familial adenomatous polyposis

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