Long-term response of hepatocellular carcinoma to sorafenib in a patient with HFE-haemochromatosis

Abstract

In the literature there has been only one case report of cirrhotic patient with hepatocellular carcinoma (HCC) and with a history of hereditary haemochromatosis treated with sorafenib for six months. Herein, we describe a case of a primary non-cirrhotic patient who was incidentally diagnosed with haemochromatosis during prolonged therapy with sorafenib due to HCC. A 53-year-old primary non-cirrhotic man with advanced HCC was treated with sorafenib at 400 mg twice daily since October 2010 following percutaneous ablation treatment of the largest liver nodule. He was seronegative for hepatitis B and C virus. After two years of kinase inhibitor therapy, the liver changes with cirrhotic features suggesting hemochromatosis were discovered on repeated imaging. The diagnosis of associated iron-overload disease was confirmed by genotypic expression — he was homozygous for the HFE gene C282Y mutation. Maintaining cancer stabilisation by continuing sorafenib therapy at the fixed standard dose for six years, he has undergone thirty-five phlebotomies until now.