[The role of molecular pathology in the diagnosis, prognosis, and management of childhood tumors].
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Pediatric extracranial solid tumors continue to pose significant challenges due to their rarity and heterogeneity. However, the diagnosis and treatment of these diseases have undergone substantial transformation in recent years, largely driven by the growing use of molecular pathology techniques. The increasingly detailed mapping of genetic and epigenetic alterations, along with gene expression patterns, enables more accurate tumor classification, prognostic stratification, and the identification of targeted therapeutic options. This paper illustrates the clinical relevance of molecular approaches in routine pediatric oncology practice through examples including pediatric soft tissue sarcomas, neuroblastoma, and vascular anomalies. It also highlights the potential of this evolving paradigm. The manuscript provides an in-depth discussion of the applicability of emerging technologies – such as next-generation sequencing, and optical genome mapping – in advancing our understanding of tumor biology, improving diagnostic accuracy, and guiding optimal treatment strategies. Furthermore, it addresses the germline genetic background of these pediatric tumors, the detection of therapeutically actionable genetic alterations, and the clonal evolution associated with treatment resistance.Orv Hetil. 2025; 166(40): 1563–1573.