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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

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Somatic mutation profiling of liver and biliary cancer by targeted next generation sequencing

Bo-Lun Zhang1, Xu Ji2, Ling-Xiang Yu2

  • 1Department of General Surgery, Clinical Medical College of Weifang Medical University, Weifang, Shandong 261042, P.R. China.

Oncology Letters
|October 23, 2018
PubMed

Insights

This study profiles somatic mutations in Chinese liver and biliary cancers, revealing unique patterns and correlations with clinical features like hepatitis B virus infection and cirrhosis. Many patients may benefit from targeted therapies beyond sorafenib.

Area of Science:

  • Oncology
  • Genomics
  • Cancer Research

Background:

  • Liver and biliary cancers are lethal with limited treatment options.
  • Somatic mutation profiles, especially low-frequency variants, in Chinese patients remain understudied.
  • Understanding these mutations is crucial for developing targeted therapies.

Purpose of the Study:

  • To profile somatic mutations in Chinese hepatocellular carcinoma (HCC) and biliary tract cancer (BTC) patients.
  • To identify novel variants and compare mutation profiles with existing datasets.
  • To investigate the potential for targeted therapy based on identified mutations.

Main Methods:

  • Targeted next-generation sequencing of 372 cancer-related genes.
  • Analysis of tumor tissues from 45 HCC and 12 BTC Chinese patients.
  • Comparison of mutation profiles with public databases like TCGA and NCC_JP.

Main Results:

  • Identified 263 variants in 139 genes, with 85.6% being novel.
  • Observed distinct mutation profiles compared to TCGA and NCC_JP datasets.
  • Correlated mutation patterns with hepatitis B virus infection, cirrhosis, and abnormal bilirubin levels.
  • Found 7% of patients had variants in sorafenib targets and 42% in targets of other approved drugs.

Conclusions:

  • Chinese HCC/BTC patients exhibit diverse and population-specific mutation patterns.
  • Mutation load and profiles are linked to clinical features.
  • A significant proportion of patients may benefit from targeted therapies beyond sorafenib, warranting further clinical investigation.
Keywords:
biliary tract cancerhepatitis B virushepatocellular carcinomanext generation sequencingsomatic mutation

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