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Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis--adenomatous polyposis coli (APC)--are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at a median age of 22 months (range 6-119 months). No germline APC mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.

Original publication




Journal article


J Pediatr Gastroenterol Nutr

Publication Date





675 - 677


Adenomatous Polyposis Coli, Base Sequence, Child, Child, Preschool, DNA Primers, Female, Genes, APC, Germ-Line Mutation, Hepatoblastoma, Humans, Infant, Liver Neoplasms, Male, Polymorphism, Single Nucleotide, Prevalence, Retrospective Studies