title: Infrequent mutations of the TP53 gene and no amplification of the MDM2 gene in hepatoblastomas.
abstract: We have investigated the mutation of the TP53 gene in hepatoblastomas (HBLs) by using polymerase chain reaction-single strand conformation polymorphism and direct sequencing in 38 HBL tumor samples and in two HBL cell lines. We detected the TP53 gene mutation in an anaplastic hepatoblastoma cell line, but no aberration of the TP53 gene (exons 5-9) was found in tumor samples and in the other HBL cell line. The mutation of the cell line was a missense mutation from GAC (asparagine) to CAC (histidine) at codon 281, which was different from the G-to-T transversion of codon 249 that is frequently found in adult hepatocellular carcinomas (HCCs). In addition, we performed Southern blot analysis of the MDM2 gene, but we did not find MDM2 gene amplification in 19 cases tested. Our results suggest that, in contrast to the findings in HCCs in adults, TP53 gene aberrations are not involved in the development or progression of HBLs in children.
authors.affiliation: Department of Pediatrics, University of Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ohnishi
authors.forename: M
authors.initials: M
authors.lastname: Kawamura
authors.forename: R
authors.initials: R
authors.lastname: Hanada
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: Y
authors.initials: Y
authors.lastname: Tsunoda
authors.forename: T
authors.initials: T
authors.lastname: Hongo
authors.forename: F
authors.initials: F
authors.lastname: Bessho
authors.forename: K
authors.initials: K
authors.lastname: Yokomori
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D006528:Carcinoma, Hepatocellular / Q000235:genetics; D002460:Cell Line; D002648:Child; D003062:Codon; D017931:DNA Primers; D005091:Exons; D016158:Genes, p53; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics*; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2; D011519:Proto-Oncogenes; D014407:Tumor Cells, Cultured
chemical_list: D003062:Codon; D017931:DNA Primers; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2