Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.

Journal article

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.

Authors: Harvey, J; Clark, S; Hyer, W; Hadzic, N; Tomlinson, I

• Journal: Journal of pediatric gastroenterology and nutrition
• Volume: 47
• Issue: 5
• Pages: 675-677
• Publication date: 2008-11-01
• DOI: 10.1097/mpg.0b013e318174e808
• EISSN: 1536-4801
• ISSN: 0277-2116
• Language: English
• Keywords: Child; Female; Polymorphism, Single Nucleotide; Humans; Infant; Child, Preschool; Prevalence; DNA Primers; Base Sequence; Hepatoblastoma; Retrospective Studies; Adenomatous Polyposis Coli; Germ-Line Mutation; Genes, APC; Liver Neoplasms; Male