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J Hepatol. 2013 Feb;58(2):399-401. doi: 10.1016/j.jhep.2012.09.011. Epub 2012 Sep 19.

Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis.

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Section of Internal Medicine, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Italy.


We report the case and discuss the outcome of a 63-year-old man, who was transplanted for hepatocellular carcinoma arising from cirrhosis associated with non-alcoholic fatty liver and diabetes. Because of co-existent well-compensated idiopathic familial pulmonary fibrosis and family history of cryptogenic cirrhosis, he was screened and found positive for a novel c.2062 C>G telomerase (TERT) mutation, encoding for the protein Glu668Asp variant, which was also confirmed in the neoplastic tissue. TERT mutations have very recently been associated with a spectrum of familial hepatic liver diseases often characterized by steatosis and hepatic iron overload, and have been reported to represent a frequent risk factor for cirrhosis, being observed in as much as 3-8% of unselected patients with different liver diseases. Due to the systemic involvement of telomerase diseases very likely influencing the clinical outcome, and the peculiar biological features of hepatocellular carcinoma arising in this context, we suggest that patients with cryptogenic cirrhosis or other suggestive features should be screened for TERT mutations and specific treatment algorithms elaborated for this disease.

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