Cowden syndrome complicated with hepatocellular carcinoma possibly originating from non-alcoholic steatohepatitis (NASH)

Takaaki Sugihara; Mari Mandai; Masahiko Koda; Tomomitsu Matono; Takakazu Nagahara; Masaru Ueki; Yoshikazu Murawaki

doi:10.1111/j.1872-034X.2010.00742.x

Cowden syndrome complicated with hepatocellular carcinoma possibly originating from non-alcoholic steatohepatitis (NASH)

Hepatol Res. 2011 Feb;41(2):189-93. doi: 10.1111/j.1872-034X.2010.00742.x.

Authors

Takaaki Sugihara¹, Mari Mandai, Masahiko Koda, Tomomitsu Matono, Takakazu Nagahara, Masaru Ueki, Yoshikazu Murawaki

Affiliation

¹ Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.

PMID: 21269388
DOI: 10.1111/j.1872-034X.2010.00742.x

Abstract

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.