Mutations of the SLC25A13 gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2). Because CTLN2 has been associated with hepatocellular carcinoma (HCC) and may be involved in hepatocarcinogenesis, the objective of this study was to assess the frequency of SLC25A13 mutations in patients with non-viral HCC. A retrospective review of 154 patients with HCC, who underwent total tumor resection from July 1998 to August 2005, was conducted. After exclusion of 137 patients infected with hepatitis B and/or C viruses, 17 patients were analyzed. Genomic DNA from stored tumor and normal hepatic samples was analyzed for the SLC25A13 gene mutation. In addition, the clinicopathological and histopathological features of patients with and without the SLC25A13 gene mutation were compared. The SLC25A13 mutation was observed in two patients (12%), and the carrier rate was approximately 1 in 8 patients. The IVS6+5G>A mutation was heterozygous in both normal hepatic and tumor tissues for case 1. On the other hand, the c.851del4 mutation was heterozygous in normal tissue but homozygous in tumor tissue for case 2. No significant differences in patient characteristics were observed. Further analyses of patients with SLC25A13 gene mutations may elucidate the relationship between the citrin gene and susceptibility of HCC.
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