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


CONCLUSIONS
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).
Department of Pediatrics, University Hospital Salzburg, Austria.
Sascha
S
Kopic
Katharina
K
Eirich
Beatrice
B
Schuster
Helmut
H
Hanenberg
Raymonda
R
Varon-Mateeva
Olaf
O
Rittinger
Günther
G
Schimpl
Detlev
D
Schindler
Neil
N
Jones
D000015:Abnormalities, Multiple / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics; D005260:Female; D024522:Genes, BRCA2; D018197:Hepatoblastoma / Q000150:complications* / Q000235:genetics; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics; D009154:Mutation
D024682:BRCA2 Protein; C551750:BRCA2 protein, human