Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic aberrations (70-90%) in hepatoblastoma occur in genes involved in the Wnt signaling pathway. The Wnt signaling pathway is activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway.
Human diseases [BR:
Cancers of the digestive system
Human diseases in ICD-11 classification [BR:
Malignant neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of digestive organs
2C12 Malignant neoplasms of liver or intrahepatic bile ducts
Wnt signaling pathway
CTNNB1 (mutation) [HSA:
APC (mutation) [HSA:
AXIN2 (mutation) [HAS:
ICD-O-3.1:8970/3 Hepatoblastoma, epithelioid
ICD-O-3.1:8970/3 Hepatoblastoma, mixed epithelial-mesenchymal
Tomlinson GE, Kappler R
Genetics and epigenetics of hepatoblastoma.
Pediatr Blood Cancer 59:785-92 (2012)
Yang A, Sisson R, Gupta A, Tiao G, Geller JI
Germline APC mutations in hepatoblastoma.
Pediatr Blood Cancer 65:e26892 (2018)
Bell D, Ranganathan S, Tao J, Monga SP
Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/beta-Catenin Perspective.
Gene Expr 17:141-154 (2017)
Czauderna P, Lopez-Terrada D, Hiyama E, Haberle B, Malogolowkin MH, Meyers RL
Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy.
Curr Opin Pediatr 26:19-28 (2014)
Lopez-Terrada D, Zimmermann A
Current issues and controversies in the classification of pediatric hepatocellular tumors.
Pediatr Blood Cancer 59:780-4 (2012)
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