Invasive fungal infections pose a particular threat to oncohematological patients. Candidiasis, aspergillosis, mucormycosis, cryptococcosis and Pneumocystis pneumonia are the most common manifestations. Despite various available approaches (culture, histology, serology, imaging), diagnosis of invasive mycoses is challenging. Owing to rapid technological advancements, molecular biological methods are routinely used in diagnostics of bacterial and viral infections. At the same time, molecular tests can be of substantial assistance in the detection and characterization of mycoses, therefore several international guidelines contain recommendations on them. Although some molecular fungal tests have been introduced in Hungarian healthcare, their widespread application is lagging. Here, we provide a review of molecular tools for clinical fungal diagnostics focusing on taxon-specific polymerase chain reaction (PCR), sequencing techniques (Sanger sequencing, next-generation sequencing) and their roles in identification of fungal pathogens and detection of resistance to antifungal medication. Tests available in South-Pest Central Hospital – National Institute of Hematology and Infectious Diseases and at the Department of Pathology and Experimental Cancer Research of Semmelweis University are briefly discussed. Finally, the utility of molecular fungal diagnostics is demonstrated through two case reports. This article aims to contribute to larger implementation of molecular tools in fungal diagnostics in the Hungarian healthcare system. Orv Hetil. 2025; 166(10): 363–376.
Az onkohematológiai kórképekben szenvedő betegeket nagymértékben veszélyeztetik az invazív gombafertőzések. A leggyakrabban candidiasis, aspergillosis, mucormycosis, cryptococcosis, valamint Pneumocystis-pneumonia fordul elő. Az invazív mycosisok diagnosztikáját támogató többféle módszer (tenyésztés, szövettan, szerológia, képalkotó eljárások) ellenére kimutatásuk gyakran kihívást jelent. A gyors technológiai fejlődés következtében a molekuláris biológiai módszereket ma már rutinszerűen alkalmazzák a baktérium- és vírusdiagnosztikában is. Ugyanakkor a molekuláris vizsgálatok hatékonyan segíthetik a mycosisok felismerését is, így számos nemzetközi orvosi irányelv tartalmaz ilyen irányú ajánlásokat. Bár a molekuláris gombavizsgálatok némelyike már megjelent a hazai egészségügyi ellátásban, széles körű elterjedésük nem történt meg. Összefoglaló közleményünkben bemutatjuk a gombák által okozott invazív infekciók molekuláris diagnosztikai eszköztárát. Kitérünk a különböző taxonspecifikus polimeráz-láncreakciókra (PCR), valamint a szekvenálási eljárásokra (Sanger-szekvenálás, újgenerációs szekvenálás), továbbá a gombák azonosítása, illetve az antifungális rezisztencia kimutatása terén betöltött szerepükre. Röviden ismertetjük a Dél-pesti Centrumkórház – Országos Hematológiai és Infektológiai Intézetben és a Semmelweis Egyetem Patológiai és Kísérleti Rákkutató Intézetében elérhető vizsgálatokat, végül két esetismertetésen keresztül mutatjuk be a módszerek gyakorlati alkalmazhatóságát. A jelen áttekintés hozzájárulást kíván nyújtani a molekuláris gombadiagnosztikai módszerek magyarországi orvosi ellátásban történő nagyobb mértékű implementációjához. Orv Hetil. 2025; 166(10): 363–376.
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