Hepatoblastoma in Infants Born to Parents with Familial Adenomatous Polyposis

Abstract

Familial adenomatous polyposis (FAP) is associated with a variety of extraintestinal benign and malignant lesions, including an increased risk of hepatoblastoma (HB), a malignant tumor of the liver in children. HB in FAP patients represents a unique challenge, because it presents almost exclusively in patients younger than 5 years, well before intestinal manifestations of FAP occur. This chapter describes the history, genetic basis, and treatment of HB in general and in patients with FAP and discusses the potential benefits of early genetic testing for FAP and image-based screening for HB in infants born to parents with APC gene mutations.