Somatic pathogenic mitochondrial DNA mutations independently predict worse prognosis in hepatocellular carcinoma
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Le résumé fourni par la source
Hepatocellular carcinoma (HCC) is one of the deadliest cancers worldwide, but its cancerization and progression mechanisms are still poorly understood. Mitochondrial DNA (mtDNA) mutations have been involved in tumor progression by influencing metabolic rewiring and plasticity. In this work, we aimed to investigate the contribution of mtDNA mutations to the pathogenesis and prognosis of HCC. Whole exome sequencing data from the TCGA-LIHC project were used to reconstruct the mitochondrial genomes. Discovered variants were classified using the HmtVar pathogenicity scoring system and the ACMG/AMP standard guidelines. The validation of results was performed on a separate in-house cohort of selected HCC cases from our hospital. Pathogenic mtDNA mutations were present in 33.6% of patients. GSEA revealed pathogenic mtDNA mutations mainly targeting the reactive oxygen species (ROS) pathway, suggesting an increased ROS production in these tumors which may contribute to the survival, proliferation and metastatization capacity. Survival analysis revealed a significant decrease in the overall survival of patients harboring pathogenic mtDNA variants (p = 0.01). A similar trend was observed in the validation cohort. Overall, we showed that somatic mtDNA mutations occur in a significant proportion of HCC cases, expectedly acting as modifiers on the ROS pathway, and that their occurrence confers a worse prognosis.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Somatic pathogenic mitochondrial DNA mutations independently predict worse prognosis in hepatocellular carcinoma
- Date Crossref
- 13/07/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Iuliu Hațieganu University of Medicine and Pharmacy pays non établi dans la noticeUniversité ou école supérieure
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University of Bologna Center for Applied Biomedical Research pays non établi dans la noticeUniversité ou école supérieure
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University of Bari Aldo Moro Department of Biosciences pays non établi dans la noticeUniversité ou école supérieure
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University of Trento Department of Cellular pays non établi dans la noticeUniversité ou école supérieure
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Azienda USL di Bologna pays non établi dans la noticeÉtablissement de santé
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University of Medicine and Pharmacy "Iuliu Hatieganu" Department of Morpho-functional sciences pays non établi dans la noticeUniversité ou école supérieure
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Division of Internal Medicine pays non établi dans la noticeInstitution
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IRCCS Azienda Ospedaliero-Universitaria di Bologna pays non établi dans la noticeInstitution
Iuliu Hațieganu University of Medicine and Pharmacy, Center for Applied Biomedical Research — University of Bologna et Department of Biosciences — University of Bari Aldo Moro, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.