Hepatoblastoma in a Child with Trisomy 18: Cytogenetics, Liver Anomalies, and Literature Review

Abstract

A 26-monlh-old female with trisomy 18 and repaired omphalocele, died of metastatic disease after resection of hepatoblastoma (HB) at 21 months of age. Four other cases (three of them, published) suggest that the association of trisomy 18 and, HB may be nonrandom. Karyotype abnormalities of the tumor in our case included duplication of 2q and +20, reported previously in HB arising in patients with normal karyotype. Antecedent growth disturbance of liver, either intrinsic, (abnormal lobation) or related to contiguous extrinsic anomalies such as omphalocele or local diaphragmatic hypoplasia and possibly augmented by unusual sensitivity to noxious environmental agents, may predispose to hepatoblastoma in trisomy 18. Longevity in trisomy 18 predisposes to both hepatoblastoma and Wilms tumor, possibly by a shared pathway.

Key Words:

• chromosomes
• Hepatoblastoma
• liver anomalies
• trisomy 18
• tumor cytogenetics