Abstract

Gastrointestinal polyposis (GIP) is a rare disease characterized by formation of the numerous polyps in the gastrointestinal tract and presenting several extraintestinal manifestations. Most of the diseases are transmitted in an autosomal dominant pattern. In Korea, the epidemiological study as well as the pathological analysis of the GIP is not well established. We therefore analysed 38 items of GIP using surgically resected specimens. The materials in this study were collected from the 12 institutions and case reports in Korean literature between 1980 and 1991. The clinicopathologic findings were reevaluated by several members of the study group for gastrointestinal pathology. The results are as follows: (1) A total of 112 cases were included in this study: 83 cases were collected from 12 institutions and 29 cases were collected from Korean literature. The cases were classified as familial adenomatous polyposis (FAP), 59 cases; Gardner's syndrome, 3 cases; juvenile polyposis, 12 cases; Peutz-Jeghers syndrome, 35 cases; multiple colonic adenomas, 3 cases. (2) Among 59 cases of FAP, the range of age at operation was 14 to 61 years, and a family history was positive in 25 cases. The number of polyps in colorectum was 100~8,000. Of the 37 cases in which the examination of polyp density was available, 16 cases (43%) showed the highest density in the rectum and the sigmoid colon. The carcinomatous change within polyp(s) was present in 18 cases (31%), and associated advanced single or multiple colonic carcinomas existed in 37 cases (63%). Twenty-six (45%) tumors out of total 58 carcinomas were in the rectum. Twenty-five patients were evaluated for the upper gastrointestinal lesions, and 11 patients (44%) had pathologic lesions; multiple fundic gland polyps in 3 cases (12%), gastric and duodenal adenomas in 2 cases (8%), gastric adenomas in 2 cases (8%), duodenal adenomas in 2 cases (8%), gastric carcinoma and adenoma in 1 case (4%), gastric carcinoma in 1 case (4%). (3) Among 3 cases of Gardner's syndrome, the range of age at operation was 25 to 31 years, a family history was identified in 2 cases. One case was associated with an advanced colonic carcinoma and carcinomatous change within polyp. Extra gastrointestinal lesions were sebaceous cyst, epidermal cyst, osteoma and desmoid tumor. (4) Among 12 juvenile polyposis, the range of age at operation was 8 to 51 years and 5 patients had a family history. The carcinomatous change within polyp was found in 2 cases (17%) and associated advanced colonic carcinoma was in 4 cases (33%). The associated different type of polyps was tubular adenomas in 9 cases (75%), hyperplastic polyps in 4 cases (33%) and villous adenomas in 2 cases (17%). (5) Among 35 Peutz-Jeghers syndrome, the range of age at first operation was 6 to 42 years, family history was positive in 11 cases. The carcinomatous change within polyp was found in 1 case (3%), and associated advanced colonic carcinoma in 1 case (3%). The epithelial misplacement was observed in 4 cases (11%), and tubular or villous adenomatous feature in 4 cases (11%). In summary, the most frequent GIP for the surgical resection in Korea is FAP and the FAP is associated with high incidence of coexisting advanced and intramucosal carcinomas. Hamartomatous polyposis syndromes, such as juvenile polyposis and Peutz-Jeghers syndrome are another frequent disease for the surgical resection and are also associated with an increased risk of cancer.

• Keywords: Familial adenomatous polyposis;Gardner's syndrome;Juvenile polyposis;Peutz-Jeghers syndrome;Multiple colonic adenomas;