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Hereditary Cancer in Clinical Practice

Open Access

The case of the youngest infant with hepatoblastoma with APC gene mutation

  • Maryna Krawczuk-Rybak1,
  • Anna Jakubiuk-Tomaszuk2,
  • Elżbieta Skiba1 and
  • Andrzej Pławski3
Hereditary Cancer in Clinical Practice201210(Suppl 3):A18

Published: 20 April 2012


Colorectal CancerMutation CarrierSomatic MutationFamilial Adenomatous PolyposisAdenomatous Polyposis Coli

Hepatoblastoma is a rare early malignant liver neoplasm occurring in infants and children. Some cases of hepatoblastoma are associated with genetic conditions such as trisomies of chromosomes 18, Beckwith-Wiedemann syndrome and familial adenomatous polyposis (FAP). The observed increase in the risk of hepatoblastoma in APC (adenomatous polyposis coli) gene mutation carriers is low, not exceeding 1%, which is associated with APC gene mutation located in the region of codons 459-1309, where most mutations identified in families affected by FAP in Poland are found. Tissues obtained from patients with hepatoblastoma but without the diagnosis of FAP show loss of heterozygocity at the locus of APC or MCC (mutated in colorectal cancers) genes. Hepatoblastoma growth is the result of the sequence of changes in genetic material. However, a major role can be ascribed to the Wnt pathway where somatic mutations have been observed in the genes of Bcathenin (CTNNB1, Cathenin (cadherin-associated protein), beta 1.88kD) and AXIN1 (Axis inhibitor 1). We present a case of familial hepatoblastoma in a 3-month-old infant with a constitutional mutation in the APC gene.

Authors’ Affiliations

Department of Pediatric Oncology and Haematology, Medical University of Bialystok, Poland
Department of Pediatric Laboratory Diagnostics, Medical University of Bialystok, Poland
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland


© Krawczuk-Rybak et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.