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Familial adenomatous polyposis in two brothers with hepatoblastoma: Implications for diagnosis and screening
Author(s) -
Sanders Robert P.,
Furman Wayne L.
Publication year - 2006
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20556
Subject(s) - hepatoblastoma , familial adenomatous polyposis , medicine , adenomatous polyposis coli , genetic testing , colorectal cancer , blood cancer , exon , gastroenterology , oncology , cancer , gene , genetics , biology
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. Pediatric Blood Cancer 2006;47:851–854. © 2005 Wiley‐Liss, Inc.