Hepatoblastoma in a 4-year-old girl with Fanconi anaemia

Acta Paediatr. 2011 May;100(5):780-3. doi: 10.1111/j.1651-2227.2010.02116.x. Epub 2011 Jan 12.

Abstract

Case report: Hepatoblastoma was diagnosed in a 4-year-old girl receiving growth hormone substitution therapy for short stature. Owing to multiple congenital malformations, VACTERL-H (vertebral, anal, cardiac, tracheal, renal and limb anomalies with hydrocephalus) association had been suggested. Elevated chromosomal breakage rates and G2 phase arrest induced by DNA-crosslinking agents in cellular assays confirmed the diagnosis of Fanconi anaemia (FA), a tumour susceptibility syndrome known to be associated with hepatocellular carcinoma following androgen therapy. Subsequent genotyping revealed biallelic mutations in the FANCD1/BRCA2 gene.

Conclusion: We describe the first case of hepatoblastoma in a patient with FA to raise awareness of this tumour type in the close clinical observation of early cancer-prone forms of this condition, particularly in the presence of FANCD1/BRCA2 mutations. The present case also underscores the importance of FA testing in patients with VACTERL(-H).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • BRCA2 Protein / genetics
  • Child, Preschool
  • Fanconi Anemia / complications*
  • Fanconi Anemia / genetics
  • Female
  • Genes, BRCA2
  • Hepatoblastoma / complications*
  • Hepatoblastoma / genetics
  • Humans
  • Liver Neoplasms / complications*
  • Liver Neoplasms / genetics
  • Mutation

Substances

  • BRCA2 Protein
  • BRCA2 protein, human