Yolk sac tumour: a rare cause of raised serum alpha-foetoprotein in a young child with a large liver mass

Abstract

Primary yolk sac tumour of the liver is extremely rare, and when it occurs in a young child it can be confused with hepatoblastoma. To present a retrospective case series of primary hepatic yolk sac tumour from two institutions to highlight the imaging features. We conducted a retrospective review of pathological and imaging findings in biopsy-proven pure primary yolk sac tumour of the liver. A total of three children (15months to 6years) presented between 2006 and 2012 with primary hepatic yolk sac tumour. Two children presented with acute abdomen after minor trauma caused by tumour rupture and haemoperitoneum. We identified five additional paediatric cases of pure hepatic yolk sac tumour with descriptions of imaging findings in the literature. In seven of these eight children, central necrosis was seen on cross-sectional imaging. Primary yolk sac tumour should be considered as an alternative diagnosis to hepatoblastoma in a young child with a large liver mass and significantly raised serum alpha-foetoprotein, but in view of the nonspecific imaging features histological examination is essential for diagnosis. Although there are no specific imaging findings of primary yolk sac tumour, presence of cystic or necrotic areas and a tendency for tumour rupture are suggestive features.