Qian Zhou, Zuli Li, Linlan Song, et al. Whole-exome mutational landscape of metastasis in patient-derived hepatocellular carcinoma cells. [J]. Genes & Diseases 7(3).(2020)
DOI:
Qian Zhou, Zuli Li, Linlan Song, et al. Whole-exome mutational landscape of metastasis in patient-derived hepatocellular carcinoma cells. [J]. Genes & Diseases 7(3).(2020) DOI: 10.1016/j.gendis.2020.05.003.
Whole-exome mutational landscape of metastasis in patient-derived hepatocellular carcinoma cells
摘要
Abstract
In order to explore the genomic basis for liver cancer metastasis
whole-exome sequencing (WES) was performed on patient-derived hepatocellular carcinoma (HCC) cell lines with differential metastatic potentials and analyzed their clonal evolution relationships. An evolutionary tree based on genomic single nucleotide polymorphism (SNP) was constructed in MegaX software. The WES data showed that the average percentage of heterogeneous mutations in each HCC cell lines was 16.55% (range
15.38%–18.17%). C: G > T: A and T: A > C: G somatic transitions were the two most frequent substitutions. In these metastatic HCC cell lines
non-silent gene mutations were found in 21.88% of known driver genes and 10 classical signaling pathways. The protein interaction network was constructed by STRING
and hub genes were found in the shared trunk mutation genes and the heterogeneous branch mutations respectively. In cBioPortal database
some of the selected hub genes were found to be associated with poor overall survival (OS) of HCC patients. Among the mutated HCC driver genes
a novel KEAP1 mutation with a homozygous frameshift truncation at the c-terminal Nrf2 binding region was detected and verified in MHCC97-H and HCC97LM3 cells. In conclusion
WES data demonstrate that HCC cell lines from tumor biopsy specimens of the same patient have obtained different metastatic potentials through repeated selection in rodents in vivo
and they do indeed have a genetic relationship at the genomic level.
关键词
Keywords
Clonal evolutionEncyclopedia of genes and genomes (KEGG)Gene ontology (GO)Genome-wide associationHepatocellular carcinomaMetastatic potentialitySomatic gene mutationWhole exome sequencing