Gardner's syndrome
From Ganfyd
Syndrome of colorectal polyposis and cancer as well as extra-colonic growths such as osteomas, fibromas, sebaceous cysts and desmoid tumours. The syndrome is due to mutations in the APC gene on chromosome 5 and there is overlap with the with the Familial adenomatous polyposis syndrome. Indeed, given that the same gene is involved in both syndromes, Gardner's syndrome is regarded as a variant of FAP.
History
In 1951, Gardner published a family tree of a Utah family with a high incidence of carcinoma of the lower digestive tract[1]. The index case was a woman. Her four children and four of her grandchildren had cancer. There was no history of bowel cancer in her husband's family but there was evidence (unproven) of cancer (probably of the bowel) in the woman's family in generations above. A fifth grandson noted symptoms similar to his brothers and saught investigation. He had multiple polyps and received colectomy.
Gardner investigated living members of the family. Thirty-nine of the 50 living members of the group were examined. Five showed polyps at sigmoidoscopy, two of which were malignant.
Further work [2] showed the need for colectomy as surveillance may fail to detect malignancy in time.
References
- ↑ GARDNER EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. American journal of human genetics. 1951 Jun; 3(2):167-76.
- ↑ Debinski HS, Love S, Spigelman AD, Phillips RK. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology. 1996 Apr; 110(4):1028-30.
