Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening.
Two brothers with hepatoblastoma were noted to have a family history of early onset colon cancer. Genetic testing of the younger brother revealed a deletion in exon 15 of the adenomatous polyposis coli (APC) gene (2710-2711delAG), consistent with a diagnosis of familial adenomatous polyposis (FAP). We review the clinical and molecular aspects of the relationship between hepatoblastoma and FAP, and the implications for diagnostic testing and cancer screening in affected patients.
Sanders
Robert P
RP
Department of Hematology/Oncology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Furman
Wayne L
WL
D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001707:Biopsy, Needle; D003937:Diagnosis, Differential; D005091:Exons; D005500:Follow-Up Studies; D017353:Gene Deletion; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D018197:Hepatoblastoma / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012074:Remission Induction; D012680:Sensitivity and Specificity; D035781:Siblings; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome