A recent case report serves a useful reminder that patients with APC gene mutation are at risk for hepatoblastoma (JPGN 2012; 55: 334-36). A comprehensive review on this subject and APC gene disorders in general (along with related disorders) can be found at the following link: (APC-Associated Polyposis Conditions – GeneReviews™ – NCBI …)
One of the authors of the online link is a well-established expert in the field (Randall W Burt, MD) and updated the link in October 2011.
With regard to hepatoblastoma:
“The risk for hepatoblastoma in FAP is 750 to 7500 times higher than in the general population, although the absolute risk is estimated at less than 2%. The majority of hepatoblastomas occur prior to age three years.”
Screening for hepatoblastoma in FAP?
“Efficacy in individuals with FAP is unclear. Screening protocols in Beckwith-Wiedemann syndrome, in which the risk for hepatoblastoma is also increased, often include frequent (every 2-3 months) abdominal ultrasound examinations and measurement of serum alpha-fetoprotein concentrations and have resulted in early detection of hepatoblastomas. Screening for hepatoblastoma in FAP using the same protocol may be considered from infancy to age five years. However, the optimal interval for hepatoblastoma screening in FAP is not known, although it has been recommended that screening should occur at least every three months.”
- -Liver Tx 2008; 14: 1545. Reviews predisposing conditions to hepatoblastoma & HCC, screening & Rx. Disorders include Beckwith-Wiedeman, FAP, tyrosinemia, GSD type II, PFIC type 2, Alagille, EHBA, HBV, TPN-cholestasis/extreme prematurity.
- -J Pediatr 2005; 146: 204. Review of Cincy experience and algorithm for hepatoblastoma management.
- -H F A Vasen, G M G Möslein, A Alonso, et al. Guidelines for the clinical management of Familial adenomatous polyposis (FAP) Gut 2008 57: 704-713
- -Polymnia Galiatsatos, ,William D. Foulkes. Familial Adenomatous Polyposis Am J Gastroenterol 2006;101:385–398
- -Gastroenterol 2001; 121: 195-197 &198-213. Guidelines & technical review of genetic testing for FAP & HNPCC.