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Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia
Author(s) -
Kopic Sascha,
Eirich Katharina,
Schuster Beatrice,
Hanenberg Helmut,
VaronMateeva Raymonda,
Rittinger Olaf,
Schimpl Günther,
Schindler Detlev,
Jones Neil
Publication year - 2011
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2010.02116.x
Subject(s) - hepatoblastoma , medicine , fanconi anemia , short stature , hepatocellular carcinoma , girl , pediatrics , oncology , gastroenterology , gene , genetics , biology , dna repair
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).