KEGG   DISEASE: Hepatoblastoma
Entry
H02302                      Disease                                

Name
Hepatoblastoma
Description
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.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of the digestive system
   H02302  Hepatoblastoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  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
      H02302  Hepatoblastoma
Pathway
hsa04310 Wnt signaling pathway   
Gene
CTNNB1 (mutation) [HSA:1499] [KO:K02105]
APC (mutation) [HSA:324] [KO:K02085]
AXIN2 (mutation) [HAS:8313] [KO:K04385]
Comment
ICD-O-3.1:8970/3 Hepatoblastoma
ICD-O-3.1:8970/3 Hepatoblastoma, epithelioid
ICD-O-3.1:8970/3 Hepatoblastoma, mixed epithelial-mesenchymal
Other DBs
ICD-11: 2C12.01
ICD-10: C22.2
MeSH: D018197
Reference
  Authors
Tomlinson GE, Kappler R
  Title
Genetics and epigenetics of hepatoblastoma.
  Journal
Pediatr Blood Cancer 59:785-92 (2012)
DOI:10.1002/pbc.24213
Reference
  Authors
Yang A, Sisson R, Gupta A, Tiao G, Geller JI
  Title
Germline APC mutations in hepatoblastoma.
  Journal
Pediatr Blood Cancer 65:e26892 (2018)
DOI:10.1002/pbc.26892
Reference
  Authors
Bell D, Ranganathan S, Tao J, Monga SP
  Title
Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/beta-Catenin Perspective.
  Journal
Gene Expr 17:141-154 (2017)
DOI:10.3727/105221616X693639
Reference
  Authors
Czauderna P, Lopez-Terrada D, Hiyama E, Haberle B, Malogolowkin MH, Meyers RL
  Title
Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy.
  Journal
Curr Opin Pediatr 26:19-28 (2014)
DOI:10.1097/MOP.0000000000000046
Reference
  Authors
Lopez-Terrada D, Zimmermann A
  Title
Current issues and controversies in the classification of pediatric hepatocellular tumors.
  Journal
Pediatr Blood Cancer 59:780-4 (2012)
DOI:10.1002/pbc.24214
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