Germline APC mutations in hepatoblastoma

Adeline Yang, Rebecca Sisson, Anita Gupta, Greg Tiao, James I. Geller*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Background: Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB. Methods: An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype/phenotype correlations were assessed. Results: As of July 2015, 29 patients with HB had received constitutional APC testing. Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC pathogenic cases, with a slower imaging response despite an equivalent or slightly faster α-fetoprotein (AFP) response. Conclusion: The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP.

Original languageEnglish (US)
Article numbere26892
JournalPediatric Blood and Cancer
Issue number4
StatePublished - Apr 2018
Externally publishedYes


  • adenomatous polyposis coli (APC)
  • cancer surveillance
  • familial adenomatous polyposis (FAP)
  • Gardner syndrome
  • hepatoblastoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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