| An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes. | |
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MedLine Citation:
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PMID: 12745462 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder characterised by xanthomas, neurological dysfunctions and premature atherosclerosis. A case of a well differentiated adenocarcinoma of the gallbladder occurring in a 57-year-old Japanese man with CTX, confirmed clinically, biochemically and at autopsy is reported together with analyses of the sterol 27-hydroxylase (CYP27) and p53 genes. A missense mutation of the p53 (G for C) was detected in the gallbladder adenocarcinoma. Direct sequence analysis also showed a silent mutational substitution of unknown significance, C for A, in CYP27 at codon 89. In the past, CTX patients have only demonstrated this infrequently, indicating no direct relationship between CYP27 dysfunction and tumour development. Thus, the present case of gallbladder cancer appears to be a chance occurrence. |
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Authors:
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Hiroya Kato; Sukenari Koyabu; Shigenori Aoki; Takuya Tamai; Masahiro Sugawa; Masatoshi Watanabe; Taizo Shiraishi |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pathology Volume: 35 ISSN: 0031-3025 ISO Abbreviation: Pathology Publication Date: 2003 Apr |
Date Detail:
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Created Date: 2003-05-14 Completed Date: 2003-07-29 Revised Date: 2012-01-30 |
Medline Journal Info:
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Nlm Unique ID: 0175411 Medline TA: Pathology Country: England |
Other Details:
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Languages: eng Pagination: 141-4 Citation Subset: IM |
Affiliation:
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Department of Internal Medicine, Owase General Hospital, Owase, Mie, Japan. kato2001@clin.medic.mie-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Achilles Tendon
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metabolism,
pathology Adenocarcinoma / complications, genetics*, metabolism, pathology* Cytochrome P-450 CYP27A1 DNA Mutational Analysis DNA, Neoplasm / analysis Gallbladder Neoplasms / complications, genetics*, metabolism, pathology* Genes, p53* Humans Immunoenzyme Techniques Male Middle Aged Mutation, Missense Steroid Hydroxylases / genetics*, metabolism Tumor Markers, Biological / metabolism Tumor Suppressor Protein p53 / genetics, metabolism Xanthomatosis, Cerebrotendinous / complications, genetics*, metabolism, pathology* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Neoplasm; 0/Tumor Markers, Biological; 0/Tumor Suppressor Protein p53; EC 1.14.-/Cytochrome P-450 CYP27A1; EC 1.14.-/Steroid Hydroxylases; EC 1.14.13.15/CYP27A1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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