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Cowden syndrome complicated with hepatocellular carcinoma possibly originating from non‐alcoholic steatohepatitis (NASH)
Author(s) -
Sugihara Takaaki,
Mandai Mari,
Koda Masahiko,
Matono Tomomitsu,
Nagahara Takakazu,
Ueki Masaru,
Murawaki Yoshikazu
Publication year - 2011
Publication title -
hepatology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.123
H-Index - 75
eISSN - 1872-034X
pISSN - 1386-6346
DOI - 10.1111/j.1872-034x.2010.00742.x
Subject(s) - cowden syndrome , pten , pathognomonic , hepatocellular carcinoma , medicine , tensin , steatohepatitis , pathology , fatty liver , gastroenterology , biology , disease , pi3k/akt/mtor pathway , genetics , apoptosis
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.