Diagnosis and treatment characteristics of familial hepatocellular adenoma and gene mutation analysis of family members

doi:10.3877/cma.j.issn.2095-3232.2026.03.014

Abstract

Abstract:

Objective

To explore the pathogenesis, clinical diagnosis and treatment characteristics of FHA through analyzing the pedigree of FHA and gene mutation of family members.

Methods

Clinical data of 1 FHA patient admitted to Sun Yat-sen University Cancer Center in March 2016 were retrospectively analyzed. In this 24-year-old female patient, gadoxetate disodium-enhanced MRI showed a space-occupying lesion in the right lobe of the liver with clear margin and uneven signal, 14.9 cm×9.9 cm×13.2 cm in size, complicated by liver cirrhosis and multiple diffuse liver cirrhosis nodules, and suspicious cancerous nodules were seen in liver segment 5/6 (S5/6). In August, 2016, abnormal elevation of prothrombin (PIVKA-Ⅱ) was detected (307 mAU/ml). Ultrasound-guided puncture biopsy confirmed necrotic and hyperplastic tissues in S8, and hepatocellular hyperplasia with atypia and fatty degeneration of partial cells in S6. Immunohistochemistry was combined to make the diagnosis of hepatocellular adenoma (HCA). No evidence of malignant tumor was found. Considering the large range and multiple lesions of HCA, and no surgical indication, intimate follow-up was recommended. In her family, multiple members were confirmed and suspected with HCA. Whole-exome sequencing was performed in the tumor tissues and blood samples from multiple family members.

Results

Five family members of three generations had a history of liver disease, and 4 of them were diagnosed with liver tumors (2 diagnosed with HCA by imaging and pathological examinations, and the other 2 patients were diagnosed with hemangioma or HCA by imaging examination). All these 4 patients diagnosed with liver tumors were female, and they had no history of hepatitis B, normal AFP level, and no history of taking contraceptives or hormones. A total of 2522 candidate mutation loci were screened by whole-exome sequencing. After eliminating 488 common mutation loci and 10 suspected false-positive loci, a series of rare mutation loci were finally obtained, mainly distributed in the exon region. However, no gene mutation related to HCA was found.

Conclusions

FHA is characterized with familial genetic susceptibility, and clinical treatment of FHA is complicated. In this study, rare mutation loci are identified, suggesting the pathogenesis of FHA may be associated with gene mutation.

Key words: Hepatocellular adenoma, Genetic mutations, Hereditary susceptibility, Imaging, Therapeutic strategies

Fang Luo, Minke He, Qingxian Cai, Zhengjun Yang, Li Xu. Diagnosis and treatment characteristics of familial hepatocellular adenoma and gene mutation analysis of family members[J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2026, 15(03): 392-397.

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References 23

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