https://scholars.lib.ntu.edu.tw/handle/123456789/473520
Title: | Somatic mutations of β-catenin play a crucial role in the tumorigenesis of sporadic hepatoblastoma | Authors: | YUNG-MING JENG MU-ZON WU TSUI-LIEN MAO MEI-HWEI CHANG Hsu H.-C. |
Issue Date: | 2000 | Journal Volume: | 152 | Journal Issue: | 1 | Start page/Pages: | 45-51 | Source: | Cancer Letters | Abstract: | Hepatoblastoma (HB) is the most common malignant hepatic tumor during early childhood. Its molecular pathogenesis is still poorly understood. Mutations of adenomatous polyposis coli (APC) gene have been identified in sporadic cases and in individuals associated with familial adenomatous polyposis syndrome. β-Catenin is a key element in the cadherin-mediated cell adhesion system and Wnt/wingless pathway, and is controlled by APC. APC affects the degradation of β-catenin by its NH2-terminal phosphorylation on the serine/threonine residues of exon 3. Mutations of these phosphorylation sites are primary targets for activating mutations in several types of human cancer and lead to nuclear accumulation of β-catenin protein. In this study, we examined nine patients with HB using immunohistochemistry and direct DNA sequencing. All nine cases showed predominant nuclear expression of β-catenin. Eight cases (89%) showed mutations involving exon 3 of the β-catenin gene, including five with deletions and three with missense mutations. All five deletions were in-frame deletions without frameshift. The very high frequency of mutations in the β-catenin gene suggests that β-catenin mutations are crucial in the tumorigenesis of HB. Copyright (C) 2000 Elsevier Science Ireland Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034724962&doi=10.1016%2fS0304-3835%2899%2900433-4&partnerID=40&md5=936ed8fa25b48d044e5a223fdfc85014 https://scholars.lib.ntu.edu.tw/handle/123456789/473520 |
ISSN: | 0304-3835 | DOI: | 10.1016/S0304-3835(99)00433-4 | SDG/Keyword: | beta catenin; article; cell adhesion; child; clinical article; colon polyposis; controlled study; deletion mutant; gene expression; hepatoblastoma; human; human tissue; immunohistochemistry; infant; missense mutation; priority journal; protein degradation; protein phosphorylation; sequence analysis; somatic mutation; Amino Acid Sequence; beta Catenin; Child; Child, Preschool; Cytoskeletal Proteins; Female; Gene Deletion; Hepatoblastoma; Humans; Immunohistochemistry; Infant; Infant, Newborn; Liver Neoplasms; Male; Molecular Sequence Data; Mutation; Sequence Analysis, DNA; Trans-Activators |
Appears in Collections: | 病理學科所 |
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