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

Sascha Kopic, Katharina Eirich, Beatrice Schuster, Helmut Hanenberg, Raymonda Varon-Mateeva, Olaf Rittinger, Günther Schimpl, Detlev Schindler, Neil Jones

Research output: Contribution to journalArticle

10 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)780-783
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Issue number5
StatePublished - May 2011


  • Chromosomal breakage
  • Fanconi anaemia
  • Hepatoblastoma
  • Liver tumour
  • VACTERL association

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Kopic, S., Eirich, K., Schuster, B., Hanenberg, H., Varon-Mateeva, R., Rittinger, O., Schimpl, G., Schindler, D., & Jones, N. (2011). Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. Acta Paediatrica, International Journal of Paediatrics, 100(5), 780-783. https://doi.org/10.1111/j.1651-2227.2010.02116.x