Mutational Signatures in Pediatric Hepatoblastoma: Molecular Mechanisms and Prognostic Potential

Le résumé fourni par la source

Cancer genomes reflect both the accumulation of somatic mutations and the underlying mutational processes that generate them. While somatic mutation burden provides a quantitative measure of genomic alterations, mutational signatures capture the mechanistic footprints of endogenous and exogenous DNA damage and repair pathways. This distinction is crucial in pediatric cancers, which typically exhibit low mutation burden arising from biologically distinct, developmentally constrained mechanisms. Recent large-scale genomic studies demonstrate that pediatric tumors harbor a restricted repertoire of COSMIC mutational signatures, in contrast to findings in adult cancers, which exhibit broader mutational diversity driven by cumulative environmental exposures. In this review, we systematically revisit, synthesize, and critically re-evaluate the current evidence on mutational signatures in pediatric malignancies, with a focus on hepatoblastomas.

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