A molekuláris biológiai technikák utóbbi évtizedekben látott fejlődésének köszönhetően a vérplazmában keringő biomolekuláknak, így például a tumor eredetű sejtmentes DNS-fragmentumoknak is korábban elképzelhetetlen mélységű vizsgálata vált elérhetővé. A minimális invazivitással járó folyadékbiopsziás mintavétel metasztatikus tumorok esetében lehetővé teszi eltérő anatómiai lokalizációval megjelenő genetikai aberrációk egyidejű feltérképezését, azok nyomon követését, illetve a klonális evolúció következtében megjelenő további abnormalitások kimutatását is. Ebből következően számos, szolid tumorokat vizsgáló, folyadékbiopsziás mintavételt alkalmazó tanulmány jelent meg az utóbbi évtizedben, néhány entitás vonatkozásában pedig az eljárás már a rutindiagnosztikában is alkalmazásra került. Onkohematológiában az ebből a szempontból legintenzívebben kutatott megbetegedések közé a diffúz nagy B-sejtes limfóma, a Hodgkin-limfóma, illetve a plazmasejtes mielóma tartozik. Saját, illetve irodalmi adatok alapján a tumor eredetű sejtmentes DNS vizsgálata hasznos lehet a kezelést megelőző prognózisbecslésben, a célozható molekuláris eltérések azonosításában, a terápiás hatékonyság és a minimális reziduális betegség monitorozásában, valamint a terápiarezisztens klónok kimutatásában. Jelen összefoglaló közleményünkben a folyadékbiopszia-vizsgálatok onkohematológiai alkalmazásait tekintjük át.
Advances in molecular biology techniques during the past decades allowed for the scrutiny of tumor derived biomolecules, including circulating tumor DNA fragments at an unprecedented level. In case of metastatic tumors, the minimally invasive liquid biopsy sampling provides great opportunity to simultaneously detect and monitor genetic aberrations emerging at distinct anatomical sites, and to identify alterations associated with clonal evolution. Consequently, several studies have recently interrogated the utility of liquid biopsy in the analysis of solid tumors, with this approach already being incorporated into the diagnostic workflow of some diseases. In oncohematology, diffuse large B-cell lymphoma, Hodgkin lymphoma and multiple myeloma are the most intensively studied entities in this regard. Based on data previously published by our group and others, the investigation of circulating tumor DNA in hematology has a potential to convey invaluable prognostic information prior to treatment, to detect actionable genetic alterations, to monitor treatment efficacy and minimal residual disease as well as to identify therapy resistant clones. In this review, we provide an overview of the potential applications of liquid biopsy analysis in oncohematology.
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