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Updated: Sep 22, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Atypical pathogens presenting with pulmonary consolidations detected by cell-free DNA next-generation sequencing in
Mario Caldararo1, Jumanah Algazaq1, Elizabeth Schmidt1
1Infectious Diseases Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Abstract:
Identification of pathogens with pulmonary presentation in patients with hematologic malignancies may be challenging due to diagnostic difficulty related to the underlying malignancy and limitations of conventional microbiologic methods. Herein, we present a case series of three patients with pulmonary consolidations due to Legionella bozemanae necrotizing pneumonia, Pneumocystis jirovecii pneumonia, and disseminated Scedosporium infection, who were diagnosed by microbial cell-free DNA next-generation sequencing. We observed that this new sequencing modality was in agreement with gold-standard diagnostics, posing a potential solution to the problem of limited capability in diagnosing infections in hematological malignancy patients.
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