Somatic mutations of genes involved in NF-κB, PI3K/AKT, NOTCH, and JAK/STAT signaling pathways play an important role in the pathogenesis of Hodgkin lymphoma (HL). HL tumor cells form only about 5% of the tumor mass; however, it was shown that HL tumor-derived DNA could be detected in the bloodstream. This circulating tumor DNA (ctDNA) reflects the genetic profile of HL tumor cells and can be used for qualitative and quantitative analysis of tumor-specific somatic DNA mutations within the concept of liquid biopsy. Overall, the most frequently mutated gene in HL is STAT6; however, the exact spectrum of mutations differs between individual HL histological subtypes. Importantly, reduction of ctDNA plasma levels after initial treatment is highly correlated with prognosis. Therefore, ctDNA shows great promise as a novel tool for non-invasive tumor genome analysis for biomarker driven therapy as well as for superior minimal residual disease monitoring and treatment resistance detection. Here, we summarize the recent advancements of ctDNA analysis in HL with focus on ctDNA detection methodologies, genetic profiling of HL and its clonal evolution, and the emerging prognostic value of ctDNA.

• Klíčová slova
• Circulating tumor DNA, Genomic profile, Hodgkin lymphoma, Risk factors, ctDNA,
• MeSH
• cirkulující nádorová DNA * genetika   MeSH
• DNA nádorová genetika   MeSH
• fosfatidylinositol-3-kinasy MeSH
• Hodgkinova nemoc * diagnóza   genetika   MeSH
• lidé MeSH
• mutace MeSH
• nádorové biomarkery genetika   MeSH
• NF-kappa B MeSH
• protoonkogenní proteiny c-akt MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• cirkulující nádorová DNA * MeSH
• DNA nádorová MeSH
• nádorové biomarkery MeSH
• NF-kappa B MeSH
• protoonkogenní proteiny c-akt MeSH