A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.

Abstract

Attenuated familial adenomatous polyposis, which accounts for ~10% of familial adenomatous polyposis, is difficult to diagnose because of its milder course and later onset. In both familial adenomatous polyposis and attenuated familial adenomatous polyposis, duodenal cancer is usually recognized 10-20years after the diagnosis of colonic polyposis. We present herein a 66-year-old man who received pancreaticoduodenectomy due to ampullary carcinoma 17years before onset of colonic polyposis. He then received extended right hemicolectoy for ascending colon cancer and ⁓100 polyps located from ceacum to splenic flexure of colon 2years ago. The patient received Adenomatous polyposis coli (APC) genetic testing and detected a germline pathogenic frameshift variant in the APC gene (NM_000038.6:c.4875delA, ClinVar variant ID (127299)). The variant is classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. APC genetic testing was subsequently performed on his younger children (30 and 26year old) and they found a same frameshift variant as his father. They were not detected any colonic polyposis by colonoscopy. This is a rare case report of attenuated familial adenomatous polyposis that diagnosed with gastric and colon polyposis >10years after the diagnosis of ampullary carcinoma and the first report of genetic diagnosis of an attenuated familial adenomatous polyposis variant in young relatives before the onset of the disease.