Gardner syndrome: The role of imaging methods

Background: Gardner syndrome is a variant form of the classical, well known adenomatosus polyposis (FAP). Many different organs have noncancerous tissue masses including sebaceous cysts, epidermoid cysts, fibromas, desmoid tumors and osteomas. Petients with Gardner syndrome face a higher risk of developing colorectal cancer or other malignant conditions. The APC gene is linked to Gardner syndrome which stands for adenomatosus polyposis coli. A mutation of this gene provides an increased lifetime risk of developing polyps and cancer. The risk of developing colon cancer reaches almost 100%, other cancer risk move around 1.5–12%.

Case demonstration: A 17 year old female patient's father died from metastatic colon cancer. She herself was operated on her legs several times, the histology proved benign fibroma. The suspition of Gardner syndrome suspected, therefore a gastroenterological examination was carried out. The gastroscopy found numerous little polyps from the antrum to the cardia. The biopsy confirmed hyperplastic polyps. Colonoscopy found five little polyps which were removed by polypectomy. The histology was the same like in the stomach. We planned a CT scan of the small bowel, but the patient refused it.

Conclusion: Despite the increased cancer risk of patients suffering from Gardner syndrome, we found only little hyperplastic polyps in the gastrointestinal tract. The theraputic protocol consists of regular cooscopy, upper endoscopy, small bowel CT, yearly abdominal ultrasound (screening for hepatoblastoma), dermatologic examination of the skin and thyroid ultrasound. Total colectomy at young age should be considered.