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Background <p>Hepatocellular carcinoma (HCC) is notable for its marked molecular heterogeneity and poor response to systemic therapy. Targeted next-generation sequencing (NGS) has facilitated the profiling of somatic alterations in HCC. However, the interpretation of panel-based genomic features such as tumor mutational burden (TMB), copy number alterations, and candidate gene fusions remains challenging, particularly in HBV-endemic Asian populations.</p> Objective <p>To explore the somatic mutation landscape of HCC using a targeted sequencing panel in a regional cohort and to descriptively assess its associations with clinicopathological characteristics.</p> Methods <p>We conducted a 671-gene targeted NGS panel covering approximately 2.5&#xa0;Mb of coding regions on tumor-normal paired samples from 40 patients with HCC and integrated the mutational profiles with clinicopathological data. We analyzed somatic mutations, copy number variation signals, and candidate fusion events. We performed functional enrichment analyses and comparative analyses with the Cancer Genome Atlas (TCGA) cohort. Survival analyses were conducted in an exploratory manner.</p> Results <p>TP53 was the most frequently mutated gene (55%) and its mutation status was associated with hepatitis B virus infection, higher Edmondson–Steiner grade, and microvascular invasion. Panel-derived TMB values were evaluated descriptively, and exploratory survival analyses suggested potential differences between patient subgroups. Two candidate in-frame fusion signals, KIT–PDGFRA and ROS1–FBXL17, were detected in individual samples based on targeted DNA sequencing. Functional enrichment analyses indicated that mutated genes were mainly associated with cancer-related biological processes.</p> Conclusions <p>This study provides an exploratory overview of somatic alterations detected by a targeted sequencing panel in a regional HCC cohort. Given the limitations inherent to panel-based analyses and the lack of independent validation, these findings should be interpreted cautiously and primarily serve as a reference for future large-scale and experimentally validated studies aimed at refining precision oncology strategies in HCC.</p>

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Analysis of genetic mutation characteristics in 40 Chinese patients with hepatocellular carcinoma

  • 期刊论文

  • 发表日期：

    2026年2月9日

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  • Shaoshao Xu,
  • Lei Li,
  • Dongchang Yang,
  • Tao Liu,
  • Binyu Liu,
  • Qingqing Xun,
  • Yanrong Liu

摘要

Background

Hepatocellular carcinoma (HCC) is notable for its marked molecular heterogeneity and poor response to systemic therapy. Targeted next-generation sequencing (NGS) has facilitated the profiling of somatic alterations in HCC. However, the interpretation of panel-based genomic features such as tumor mutational burden (TMB), copy number alterations, and candidate gene fusions remains challenging, particularly in HBV-endemic Asian populations.

Objective

To explore the somatic mutation landscape of HCC using a targeted sequencing panel in a regional cohort and to descriptively assess its associations with clinicopathological characteristics.

Methods

We conducted a 671-gene targeted NGS panel covering approximately 2.5 Mb of coding regions on tumor-normal paired samples from 40 patients with HCC and integrated the mutational profiles with clinicopathological data. We analyzed somatic mutations, copy number variation signals, and candidate fusion events. We performed functional enrichment analyses and comparative analyses with the Cancer Genome Atlas (TCGA) cohort. Survival analyses were conducted in an exploratory manner.

Results

TP53 was the most frequently mutated gene (55%) and its mutation status was associated with hepatitis B virus infection, higher Edmondson–Steiner grade, and microvascular invasion. Panel-derived TMB values were evaluated descriptively, and exploratory survival analyses suggested potential differences between patient subgroups. Two candidate in-frame fusion signals, KIT–PDGFRA and ROS1–FBXL17, were detected in individual samples based on targeted DNA sequencing. Functional enrichment analyses indicated that mutated genes were mainly associated with cancer-related biological processes.

Conclusions

This study provides an exploratory overview of somatic alterations detected by a targeted sequencing panel in a regional HCC cohort. Given the limitations inherent to panel-based analyses and the lack of independent validation, these findings should be interpreted cautiously and primarily serve as a reference for future large-scale and experimentally validated studies aimed at refining precision oncology strategies in HCC.