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| Fig. 37.4 Gardner’s syndrome. Segment of colon demonstrating numerous polyps and colon adenocarcinoma at the site of the arrow. (Courtesy of the Fitzsimons Army Medical Center teaching files.) |
Gardner’s syndrome is another polyposis syndrome inherited in an autosomal dominant fashion. Mutations of the APC gene on chromosome 5c21 are responsible for the syndrome.
APC is a tumor suppressor protein with a role in cell-to-cell adhesion, signal transduction, and transcriptional activation. Patients with this syndrome have numerous epidermal inclusion cysts in the skin (50% to 65%), various dental abnormalities including osteomas of the mandible, intraabdominal desmoid tumors, and innumerable premalignant adenomatous polyps throughout the colon (Fig. 37-4). Congenital retinal pigmentation may also develop. The incidence of Gardner’s syndrome in the United States is 1 in a million, average age of onset is 22, and the lifetime risk of colon cancer in untreated patients is 100%. In addition, patients have a predisposition to periampullary and thyroid cancers. Deforming osteomas may require excision although Gardner’s skin manifestations do not typically require treatment. Underlying polyp excision is preferred, and second-line sulindac or tamoxifen is recommended for abdominal desmoid polyps or extraabdominal manifestations.
Nandakumar G, Morgan JA, Silverberg D, Steinhagen RM: Familial polyposis coli: clinical manifestations, evaluation, management, and treatment,
Mt Sinai J Med 71:384–391, 2004.
