Non-invasive diagnosis of invasive fungal disease with cell-free DNA PCR

2025/10/30 by Jordan Mah, Anthony Lieu, Niaz Banaei · 1 voice
Medicine · Veterinary · #Antifungal resistance and susceptibility #Fungal Infections and Studies #Infectious Diseases and Mycology

paper · doi:10.1128/jcm.01236-24

openalex created_date 2025/10/30 · openalex publication_date 2025/10/30 · openalex updated_date 2026/07/28

Abstract

ABSTRACT Invasive fungal disease (IFD) is a major cause of morbidity and mortality in the immunocompromised population. Early diagnosis is challenging due to the low sensitivity and non-specificity of non-invasive fungal biomarkers, the need for invasive specimen collection, and the limitations of culture and histopathology. Detection of circulating fungal cell-free DNA (cfDNA) in plasma and serum by polymerase chain reaction (PCR) represents a novel testing modality for rapid and accurate diagnosis of IFD. In this review, we summarize the performance characteristics of fungal cfDNA PCR for the diagnosis of invasive aspergillosis, mucormycosis, and Pneumocystis pneumonia. We discuss a testing algorithm that incorporates fungal cfDNA and the added diagnostic value of invasive specimen collection when non-invasive mold cfDNA PCR is performed first. Lastly, we discuss the role of diagnostic stewardship in fungal cfDNA PCR testing.

Citations

• Interlaboratory assays from the fungal PCR Initiative and the Modimucor Study Group to improve qPCR detection of Mucorales DNA in serum: one more step toward standardization
• Revision and Update of the Consensus Definitions of Invasive Fungal Disease From the European Organization for Research and Treatment of Cancer and the Mycoses Study Group Education and Research Consortium

Discussions

• Non-invasive diagnosis of invasive fungal disease with cell-free DNA PCR. Jordan Kit Mah, Anthony Lieu, Niaz Banaei Journal of Clinical Microbiology, 2025. doi.org/10.1128/jcm.... [bsky, 0 points, 0 comments]