Advanced Hepatocellular Carcinoma in a Patient with Type 1 Neurofibromatosis

Abstract

The rare case is reported of advanced hepatocellular carcinoma (HCC) in a 50-year-old male with type 1 neurofibromatosis (NF 1). The patient presented in the surgical outpatient department with a 4-year history of multiple neurofibromas over the trunk and complaints of pain in the right upper abdomen for 4 months, progressive weight loss and loss of appetite. Investigation for both the abdominal complaints and the multiple neurofibromas led to the diagnosis of advanced HCC (according to the Barcelona Clinic Liver Cancer Sstaging and Treatment Strategy) with NF 1, and the patient is being managed on oral Sorafenib as palliative treatment. NF 1 occurs due to mutation in the NF 1 gene located on 17q, which codes for the protein neurofibromin, which has a tumor suppressor function. NF1 presents rarely with malignancy, in which case tumors of the central nervous system are the most common type. To the best of our knowledge this is only the second documented case of NF 1 presenting with HCC.