9 research outputs found
Lessons from the hepatoblastoma-familial polyposis connection
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 non-related male child 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
Lessons from the hepatoblastoma- familial polyposis connection
The original publication is available at http://www.samj.org.zaBackground. 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
Surgical intervention in vascular trauma in children
Geneeskunde en GesondheidswetenskappePediatriese ChirurgiePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
Hirschsprung's disease in the neurologically challenged child
Please help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
Anorectal atresia with gross terminal colonic distension in Africa
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