J Korean Soc Coloproctol.  2003 Jun;19(3):170-176.

A Case of Familial Adenomatous Polyposis Combined with Hepatocellular Carcinoma

• Kim KI
• Lee JW
• Jo HC
• Park JH
• Bae BJ

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.

Keyword

Familial adenomatous polyposis; Hepatocellular carcinoma

MeSH Terms

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