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

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9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)399-401
Number of pages3
JournalJournal of Hepatology
Volume58
Issue number2
DOIs
Publication statusPublished - Feb 2013

Fingerprint

Telomerase
Liver Transplantation
Hepatocellular Carcinoma
Mutation
Liver Diseases
Fibrosis
Idiopathic Pulmonary Fibrosis
Iron Overload
Liver
Fatty Liver
Proteins
Cryptogenic Cirrhosis
Therapeutics

Keywords

  • Cirrhosis
  • Genetic mutation
  • Hepatocellular carcinoma
  • Liver transplantation
  • Non-alcoholic fatty liver disease
  • Telomerase

ASJC Scopus subject areas

  • Hepatology

Cite this

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title = "Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis",
abstract = "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.",
keywords = "Cirrhosis, Genetic mutation, Hepatocellular carcinoma, Liver transplantation, Non-alcoholic fatty liver disease, Telomerase",
author = "Luca Valenti and Paola Dongiovanni and Marco Maggioni and Motta, {Benedetta Maria} and Raffaela Rametta and Marta Milano and Silvia Fargion and Paolo Reggiani and Fracanzani, {Anna Ludovica}",
year = "2013",
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language = "English",
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journal = "Journal of Hepatology",
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T1 - Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis

AU - Valenti, Luca

AU - Dongiovanni, Paola

AU - Maggioni, Marco

AU - Motta, Benedetta Maria

AU - Rametta, Raffaela

AU - Milano, Marta

AU - Fargion, Silvia

AU - Reggiani, Paolo

AU - Fracanzani, Anna Ludovica

PY - 2013/2

Y1 - 2013/2

N2 - 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.

AB - 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.

KW - Cirrhosis

KW - Genetic mutation

KW - Hepatocellular carcinoma

KW - Liver transplantation

KW - Non-alcoholic fatty liver disease

KW - Telomerase

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