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Updated: Feb 16, 2026

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Published on: October 6, 2014
Germline APC mutations in hepatoblastoma.
Adeline Yang1, Rebecca Sisson2, Anita Gupta3
1University of Cincinnati College of Medicine, Cincinnati, Ohio.
Germline adenomatous polyposis coli (APC) gene mutations are more common in hepatoblastoma (HB) patients than previously thought. Testing for APC mutations is recommended for all HB patients to identify familial adenomatous polyposis (FAP).
Area of Science:
- Pediatric Oncology
- Cancer Genetics
Background:
- Conflicting reports exist regarding the frequency of adenomatous polyposis coli (APC) gene mutations in hepatoblastoma (HB).
- This has raised questions about the clinical utility of APC mutation testing in apparently sporadic HB cases.
Purpose of the Study:
- To determine the prevalence of germline APC mutations in patients with hepatoblastoma.
- To assess potential genotype/phenotype correlations, including response to chemotherapy.
Main Methods:
- Retrospective review of clinical data from HB patients who underwent APC testing.
- Institutional Review Board approval and constitutional APC testing were performed.
Main Results:
- Fourteen percent (14%) of HB patients had APC pathogenic truncations; 7% had APC missense variants of unknown significance.
- Two patients (7%) had family histories suggestive of familial adenomatous polyposis (FAP).
- APC pathogenic cases showed slower imaging response but similar or faster alpha-fetoprotein (AFP) response to chemotherapy.
Conclusions:
- The prevalence of pathogenic APC variants in apparently sporadic HB may be underestimated.
- Germline APC mutation testing is warranted for all HB patients to screen for underlying FAP.
- Observed differences in treatment response may influence surgical planning.
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