대한대장항문학회

Polyposis coli syndrome includes familial adenomatous polyposis(FAP), Gardner's<br>syndrome, Peutz-Jeghers syndrome, juvenile polyposis, Turcot syndrome, and other<br>syndromes that are associated with the presence of large numbers of polyps in the<br>colon and rectum. Although these conditions are not common, they are genetically<br>inherited syndromes, and without appropriate treatment, they are associated with high<br>risk of developing colorectal cancer.<br>In order to find out the number of patients affected by these conditions and Persons<br>at risk of having inherited the disease, and to provide them with optimal management<br>and treatment plan, we have established KOREAN POLYPOSIS REGISTRY in July 1990<br>and analyzed the data collected from 40 major hospital throughout Korea.<br>following results were obtained:<br>1) We were able to collect 74 cases (72 families) of FAP, 18cases (17 families) of<br>Peutz-Jeshers syndrome, 13cases (13 families) of juvenile polyposis.<br>2) Family history of colorectal polyposis was positive in 46% of FAP cases, 44% of<br>Peutz-jeghers syndrome, and 30% of juvenile Polyposis.<br>3) Mean age at diagnosis was 38 for FAP, 22 for Peutz-Jeshers syndrome, and 26 for<br>juvenile polyposis.<br>4) Associated cancer of the colon and rectum was detected in 58% of FAP patients,<br>and 31% of juvenile polyposis patients.<br>5) Most common extracolonic features were bone lesions (8%), duodenal adenoma<br>(8%), congenital hypertrophy of the retinal Pigment epithelium (CHRPE) (7%), dental<br>anomalies (7% ) for FAP patients, and there were 2cases (11%) of duodenal carcinoma<br>in Peutz-Jeshers syndrome. Polyps in the stomach and small intestine was found in 2<br>cases (15%) respectively in juvenile polyposis patients. Incidence of extracolonic features<br>in FAP is low because most patients have not been fully evaluated. In a recent study<br>performed in 10 patients with FAP at Seoul National University Hospital, most common<br>extracolonic features were duodenal adenoma(40%), followed by CHRPE (30%), bone<br>lesions(30％) and dental anomalies(30%).<br>6) Most commonly Performed operation was total proctocolectomy with<br>Brooks<br>ileostomy (34%), followed by colectomy with ileorectal anastomosis (22%) for FAP<br>patients, small bowel resection (43%) for Peutz-Joshers syndrome, and<br>total<br>proctocolectomy with either Brooks ileostomy or Kock ileostomy (22% each) for juvenile<br>polyposis.<br>7) There were 3 cases reported as Gardner's syndrome, associated with extracolonic<br>features of osteomas, epidermoid cysts, dental anomalies, and desmoid tumors, but none<br>of the reported cases had full expression of these features.<br>Polyposis coli syndrome has been considered as a rare disease entity in Korea, but<br>the number of newly discovered cases seem to be increasing steadily. Because of their<br>association to early development of colorectal carcinoma (especially FAP), measures for<br>early detection of the disease, as well as for identification of other family members at<br>risk, and for early prophylactic treatment should be undertaken to reduce the incidence<br>of cancer in these conditions. By establishing Korean Polyposis Registry, we hope that<br>these goals can be achieved.<br>