Gardner syndrome and periampullary malignancy

Abstract

In a family with colonic polyposis and the typical associated findings of Gardner syndrome (osteomas and soft-tissue tumors), two and possibly four of the affected members developed periampullary malignancy. A review indicates that individuals with Gardner syndrome may have a 100- to 200-fold increased risk of developing periampullary carcinoma when compared to the general population. While certain families and certain individuals (those with other duodenal involvement, males and those with all of the characteristics of Gardner syndrome expressed) may be most susceptible, all patients with Gardner syndrome should be periodically endoscopically evaluated for the presence of upper gastrointestinal tract disease.

Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

“…Whilst duodenal adenomas and carcinoma are rare in the general population (average age of onset in the mid 60s, male predominance, incidence between 0.01 and 0.04% [15][16][17]], the majority of FAP patients are likely to develop duodenal involvement with a lifetime cancer risk approaching 5% [18,19]. The average age at cancer diagnosis, 52 years (range , is earlier than in sporadic cases [1,9,20], and the relative risk of duodenal and periampullary carcinoma in FAP is estimated to be between 100 and 330 times that for the general population [1,11,21,22].…”

Ampullary Hamartoma: A Rare Cause of Biliary Obstruction

“…They may occur in association with familial adenomatosis polyposis syndromes, such as the Gardner and Turcot syndromes [1, 2, 3]. Further, the Peutz-Jeghers syndrome is also associated with ampullary tumors [4].…”

Tumors of the ampulla of vater

“…There is a 100-to 200-fold increase in the risk of adenocarcinoma [6]. Even if endoscopic visualization of the ampulla appears macroscopically normal, some practitioners advocate periodic routine biopsies to look for microscopic adenomatous changes.…”