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 Citations (Scopus)

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).

Original languageEnglish (US)
Pages (from-to)780-783
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Volume100
Issue number5
DOIs
StatePublished - May 2011
Externally publishedYes

Fingerprint

Hepatoblastoma
Fanconi Anemia
BRCA2 Gene
Chromosome Breakage
Neoplasms
Mutation
G2 Phase
Hydrocephalus
Androgens
Growth Hormone
Hepatocellular Carcinoma
Extremities
Observation
Kidney
DNA
Therapeutics
Complementation Group D1 Fanconi Anemia

Keywords

  • Chromosomal breakage
  • FANCD1/BRCA2
  • Fanconi anaemia
  • Hepatoblastoma
  • Liver tumour
  • VACTERL association

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Kopic, S., Eirich, K., Schuster, B., Hanenberg, H., Varon-Mateeva, R., Rittinger, O., ... 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

Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. / Kopic, Sascha; Eirich, Katharina; Schuster, Beatrice; Hanenberg, Helmut; Varon-Mateeva, Raymonda; Rittinger, Olaf; Schimpl, Günther; Schindler, Detlev; Jones, Neil.

In: Acta Paediatrica, International Journal of Paediatrics, Vol. 100, No. 5, 05.2011, p. 780-783.

Research output: Contribution to journalArticle

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, vol. 100, no. 5, pp. 780-783. https://doi.org/10.1111/j.1651-2227.2010.02116.x
Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O et al. Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. Acta Paediatrica, International Journal of Paediatrics. 2011 May;100(5):780-783. https://doi.org/10.1111/j.1651-2227.2010.02116.x
Kopic, Sascha ; Eirich, Katharina ; Schuster, Beatrice ; Hanenberg, Helmut ; Varon-Mateeva, Raymonda ; Rittinger, Olaf ; Schimpl, Günther ; Schindler, Detlev ; Jones, Neil. / Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. In: Acta Paediatrica, International Journal of Paediatrics. 2011 ; Vol. 100, No. 5. pp. 780-783.
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