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

J. J. Harvey, S. K. Clark, W. Hyer, N. Hadzic, I. P.M. Tomlinson, R. Hinds

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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 languageEnglish
Pages (from-to)675-677
Number of pages3
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number5
Publication statusPublished - 1 Nov 2008
Externally publishedYes


  • Adenomatous polyposis coli
  • Familial adenomatous polyposis
  • Hepatoblastoma

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