Nuclear accumulation of beta-catenin without an additional somatic mutation in coding region of the APC gene in hepatoblastoma from a familial adenomatous polyposis patient.
The APC (adenomatous polyposis coli) gene status in a familial adenomatous polyposis (FAP) patient who developed hepatoblastoma was analyzed by the yeast color assay. Although a single base insertion at codon 462 resulting in truncation of its product was documented in hepatoblastoma cells, no additional somatic mutation was detectable in the whole coding sequence of the APC gene. The nuclear accumulation of beta-catenin without mutation in the exons 2-4 of the beta-catenin gene, however, was observed in the tumor cells by immunohistochemistry. The similar nuclear accumulation of beta-catenin without an additional somatic mutation in its gene, in the absence of somatic mutation in cluster region of the APC gene, has been previously reported in the single FAP case. Moreover, review in the hepatoblastoma cases in the FAP families showed a relatively later onset of the disease when compared with the sporadic cases. These observations suggest that accumulation of beta-catenin without an additional somatic mutation in the APC gene might be a possible mechanism for tumorigenesis of hepatoblastoma in the FAP families.
Inukai
Takeshi
T
Department of Pediatrics, School of Medicine, University of Yamanashi, 1110 Shimokatou, Tamaho-cho, Nakakoma-gun, Yamanashi 409-3898, Japan. tinukai@res.yamanashi-med.ac.jp
Furuuchi
Keiji
K
Sugita
Kanji
K
Uno
Kanako
K
Ooi
Akishi
A
Sasaki
Fumiaki
F
Hamada
Jun-Ichi
J
Moriuchi
Tetsuya
T
Nakazawa
Shinpei
S
D011125:Adenomatous Polyposis Coli / Q000150:complications*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D045744:Cell Line, Tumor; D002467:Cell Nucleus / Q000378:metabolism*; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D018197:Hepatoblastoma / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D015534:Trans-Activators / Q000235:genetics / Q000378:metabolism*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D051176:beta Catenin
D025601:Adenomatous Polyposis Coli Protein; C495270:CTNNB1 protein, human; D003598:Cytoskeletal Proteins; D015534:Trans-Activators; D016159:Tumor Suppressor Protein p53; D051176:beta Catenin