A Case of Familial Adenomatous Polyposis Combined with Hepatocellular Carcinoma.
- Author:
Kwang Il KIM
1
;
Jae Woon LEE
;
Hae Chang JO
;
Jong Hoon PARK
;
Byung Jo BAE
Author Information
1. Department of Surgery, Daegu Fatima Hospital, Daegu, Korea. cho2347@fatima.or.kr
- Publication Type:Case Report
- Keywords:
Familial adenomatous polyposis;
Hepatocellular carcinoma
- MeSH:
Adenoma;
Adenoma, Bile Duct;
Adenomatous Polyposis Coli*;
Carcinoma, Hepatocellular*;
Female;
Fibroma;
Fibromatosis, Aggressive;
Germ-Line Mutation;
Hepatoblastoma;
Humans;
Hypertrophy;
Incidence;
Intestine, Small;
Lipoma;
Live Birth;
Mandible;
Osteoma;
Polyps;
Retinal Pigment Epithelium;
Skull;
Thyroid Neoplasms;
Upper Gastrointestinal Tract;
Young Adult
- From:Journal of the Korean Society of Coloproctology
2003;19(3):170-176
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Familial adenomatous polyposis (FAP) is an autosomal dominant disease characterized by formation of multiple colorectal adenomas with nearly 100 percent potential for malignant transformation. FAP is a rare condition with an incidence of 1 in 10,000 live births. Germline mutations in the adenomatous polyposis coli gene (APC) located on chromosome 5q21 have been founded in many patients with FAP. Patients with FAP can have extracolonic manifestations of their disease. These include tumors of the upper gastrointestinal tract (hamartomatous polyps, adenomas, carcinomas), small intestine adenomas or cacinoma, bile duct adenomas, papillary thyroid carcinoma, osteomas of the mandible, skull, and long bones, a variety of soft tissue lesions, including fibromas, lipomas, and desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE) and hepatoblastoma. Hepatocellular carcinoma combined with FAP is a very rare condition. Just 8 cases of Hepatocellular carcinoma with a history of FAP have been reported in the literature. We now present a report of a case of Hepatocellular carcinoma with FAP (Gardner's syndrome) in a 19 year-old girl.
