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Lessons from the hepatoblastoma-familial polyposis connection
Abstract
Methods. We retrospectively investigated 3 families with an HB-familial polyposis connection, from a cohort of 113 FAP families (1989 - 2010). Data were analysed to assess clinical problem, treatment, complications and management. Long-term morbidity and functional outcome were analysed to identify management difficulties.
Results. Three FAP families (2.65%) had an HB association. In one case, undiagnosed FAP at the time of HB diagnosis was only detected 5 years later, when the mother presented with advanced colorectal carcinoma. A chromosome 5 APC gene mutation (exon 15 codon 793 C¨T) was then identified. In a second case, a nonrelated boy presented with a stage 4 multifocal HB with lung metastases. Genetic studies identified an APC gene mutation (exon 6 codon 232 C¨T). Further family investigation showed >20
related FAP patients. A third HB-FAP association was identified in a known FAP family early in the study, prior to the availability of genetic testing.
Conclusion. Although a rare association, a family history of FAP in HB patients is an important ehidden connectionf. Germline variation may be outside the usual FAP gene site. Identifying families with unknown HB/FAP is important due to long-term management implications and follow-up.
