Metagenomic Next-Generation Sequencing for Diagnostically Challenging Mucormycosis in Patients with Hematological Malignancies

Abstract

Background: Metagenomic next-generation sequencing (mNGS) is a fast, sensitive and accurate diagnostic method for pathogens detection. However, reports on the application of mNGS in mucormycosis remain scarce. Methods: From January 2019 to December 2021, we recruited 13 patients with hematological malignancies who were suspected of mucormycosis and completed mNGS in D20. Then we retrospectively analyze the clinical data, diagnosis, therapeutic process, and outcomes. In order to evaluate the diagnostic value of mNGS in hematological malignancies patients with suspected mucormycosis. Results: All patients had high risk factors of Invasive Fungal Disease, including hematopoietic stem cell transplantation, immunosuppression, glucocorticoids, etc. The clinical presentations were pulmonary (n=9), rhino-orbito-cerebral (n=4). But the manifestations were nonspecific. All enrolled patients completed mNGS. And most (8/13, 61.54%) of the samples were from blood. Fungi can be detected in all specimens, including Rhizopus (n=7), Rhizomucor (n=4) and Mucor (n=2). In addition, 7/13 (53.85%) specimens were detected bacteria at the same time and virus were detected in 5/13 (38.46%). Histopathological examination was completed in 5 patients, 3 of which were completely consistent with the results of mNGS. After treatment, 6 patients were cured, while the other 7 patients died. Conclusion: mNGS may be a complementary method for early diagnosis, especially for patients who are not suitable for histopathology examination or unable to obtain culture specimen. mNGS can also help detect bacteria and viruses simultaneously, allowing for appropriate and timely antibiotic administration and thus improving patient outcomes.

Metagenomic next-generation sequencing could play a pivotal role in validating the diagnosis of invasive mold disease of the central nervous system

“…The detection efficacy of mNGS in central nervous system fungal infections can be influenced by multiple factors ( Zhang et al., 2020 ). In the study by Zhang et al., all 13 patients with invasive mucormycosis tested positive using mNGS, suggesting mNGS as a supplementary method for early diagnosis in patients who are unsuitable for histopathological examination or unable to obtain culture specimens ( Zhang et al., 2022 ).…”

Clinical features of pediatric mucormycosis: role of metagenomic next generation sequencing in diagnosis

“…Simultaneously, mNGS is capable of detecting bacteria, fungi and viruses. In a study that included 13 children, mNGS was found to detect both fungi and bacteria in 53.85% of samples, and both fungi and viruses in 38.46% of samples ( Zhang et al., 2022 ). In our study, 35.71% of the children were found to have viral infections, 21.43% had concurrent Aspergillus infections, and 21.43% had bacterial infections.…”

Invasive splenic mucormycosis due to Rhizopus microsporus during chemotherapy for acute monocytic leukemia: a case report and literature review

“…However, NGS revealed an infection caused by Mucorales, and the fever resolved after targeted antifungal treatment with amphotericin B liposomes (15). Zhang et al evaluated the diagnostic value of mNGS in 13 patients with hematologic malignancies suspected of mucormycosis, and their findings demonstrate that mNGS can be used not only for early diagnosis of mucormycosis, but also for simultaneous detection of bacteria and viruses, thereby improving the prognosis of patients (19). In our case, the predominant clinical manifestation was fever, and splenomegaly was revealed by abdominal ultrasonography and CT scans with multiple focal hypodensities.…”