| Cowden syndrome complicated with hepatocellular carcinoma possibly originating from non-alcoholic steatohepatitis (NASH). | |
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MedLine Citation:
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PMID: 21269388 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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There is currently no report that has documented hepatocellular carcinoma (HCC) in a case of Cowden syndrome. Here, we present the first reported case of HCC in a 60-year-old female patient with Cowden syndrome. We diagnosed the patient using a pathognomonic criterion of the International Cowden Consortium Operational Diagnostic Criteria and performed genetic analysis. Enhanced computed tomography demonstrated a hypervascular tumor in segment VII of the liver. The patient was diagnosed with Cowden syndrome because her mucocutaneous lesions met the pathognomonic criterion. Mutational analysis confirmed a heterozygous germ line TGT→TAT transition at nucleotide 407 in exon 5 of the phosphatase and tensin homolog detected on the chromosome 10 (PTEN) gene. Needle biopsy showed a poorly differentiated HCC. We also diagnosed non-alcoholic steatohepatitis (NASH) from hepatic histological findings of Mallory's bodies and ballooning cells. PTEN-deficient mice reportedly develop HCC through NASH. This is the first reported case of Cowden syndrome complicated with HCC possibly originating from NASH. |
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Authors:
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Takaaki Sugihara; Mari Mandai; Masahiko Koda; Tomomitsu Matono; Takakazu Nagahara; Masaru Ueki; Yoshikazu Murawaki |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Hepatology research : the official journal of the Japan Society of Hepatology Volume: 41 ISSN: 1386-6346 ISO Abbreviation: Hepatol. Res. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9711801 Medline TA: Hepatol Res Country: Netherlands |
Other Details:
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Languages: eng Pagination: 189-93 Citation Subset: - |
Copyright Information:
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© 2011 The Japan Society of Hepatology. |
Affiliation:
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Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. |
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