Lessons from the hepatoblastoma- familial polyposis connection
Date
2012-11
Authors
Moore, S. W.
Tshifularo, N.
Grobbelaar, J. J.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group (HMPG)
Abstract
Background. Approximately one-third of hepatoblastoma (HB)
patients have associated congenital abnormalities, but familial
recurrence is rare, except in association with familial adenomatous
polyposis (FAP). This correlation may be missed if not actively
sought, with implications for long-term outcome and management.
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 ‘hidden connection’. 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.
Description
The original publication is available at http://www.samj.org.za
Keywords
Hepatoblastoma
Citation
Moore, S. W., Tshifularo, N. & Grobbelaar, J. J. 2012. Lessons from the hepatoblastoma- familial polyposis connection. South African Medical Journal, 102(11):888-889, doi:10.7196/SAMJ.6138.