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Updated: Jan 23, 2026

Generation of Subcutaneous and Intrahepatic Human Hepatocellular Carcinoma Xenografts in Immunodeficient Mice
Published on: September 25, 2013
Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation
Ahmed Baligh Laaribi1,2, Wafa Babay1, Abdelmalek Lekired1,2
1Laboratory of Microorganisms and Active Biomolecules (LR03ES03), Faculty of Sciences of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Background:
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-associated deaths worldwide with an estimated of 900,000 new cases annually. HCC typically arises in patients with chronic liver disease, including hepatitis, cirrhosis, and non-alcoholic fatty liver diseases. Identifying of the main driver genetic alterations in oncogenic genes is essential for understanding HCC pathogenesis and defining prognostic biomarkers in high-risk patients. This study aimed to identify both germline and somatic mutations associated with HCC in a Tunisian patient's cohort.
Methods:
Forty HCC patients with different etiologies were included in this study. Peripheral blood samples were collected from 24 patients with advanced-stage HCC. Paired tumor and adjacent non-tumoral liver tissue samples were obtained from 16 early-stage HCC patients undergoing hepatic resection, including 10 fresh-frozen samples and 6 FFPE samples. DNA was extracted using the MagCore® Plus II system. Targeted next-generation sequencing was performed using the Illumina AmpliSeq™ Cancer Hotspot Panel v2.
Results:
A total of 35 germline mutations were identified across 25 genes. Recurrently altered genes included FGFR3 (100%), PDGFRA (100%), RET (98%), APC (92%), TP53 (88%), and EGFR (75%). In addition, 14 somatic mutations were detected in 13 genes, with frequent alterations observed in APC (100%), ALK (94%), HNF1A (56%), CDKN2A (50%), and HRAS (50%).
Conclusion:
This study offers the first comprehensive overview of novel germline and somatic mutations in Tunisian HCC patients, representing a North African cohort, and highlights key molecular drivers of hepatocarcinogenesis. These findings support the integration of genetic profiling into clinical practice to enhance early diagnosis and guide personalized therapies.
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