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  • Title: Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.
    Author: Harvey J, Clark S, Hyer W, Hadzic N, Tomlinson I, Hinds R.
    Journal: J Pediatr Gastroenterol Nutr; 2008 Nov; 47(5):675-7. PubMed ID: 18955873.
    Abstract:
    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.
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