血浆宏基因组二代测序鉴定重型再生障碍性贫血血流感染病原体研究

OBJECTIVE: To analyze the diagnostic value of cell-free plasma metagenomic next-generation sequencing（mNGS）pathogen identification for severe aplastic anemia（SAA）bloodstream infection. METHODS: From February 2021 to February 2022, mNGS and conventional detection methods（blood culture, etc.）were used to detect 33 samples from 29 consecutive AA patients admitted to the Anemia Diagnosis and Treatment Center of the Hematology Hospital of the Chinese Academy of Medical Sciences to assess the diagnostic consistency of mNGS and conventional detection, as well as the impact on clinical treatment benefits and clinical accuracy. RESULTS: ①Among the 33 samples evaluated by mNGS and conventional detection methods, 25 cases（75.76％）carried potential pathogenic microorganisms. A total of 72 pathogenic microorganisms were identified from all cases, of which 65（90.28％）were detected only by mNGS. ②All 33 cases were evaluated for diagnostic consistency, of which 2 cases（6.06％）were Composite, 18 cases（54.55％）were mNGS only, 2 cases（6.06％）were Conventional method only, 1 case（3.03％）was both common compliances（mNGS/Conventional testing）, and 10 cases（30.3％）were completely non-conforming（None）. ③All 33 cases were evaluated for clinical treatment benefit. Among them, 8 cases（24.24％）received Initiation of targeted treatment, 1 case（3.03％）received Treatment de-escalation, 13 cases（39.39％）received Confirmation, and the remaining 11 cases（33.33％）received No clinical benefit. ④ The sensitivity of 80.77％, specificity of 70.00％, positive predictive value of 63.64％, negative predictive value of 84.85％, positive likelihood ratio of 2.692, and negative likelihood ratio of 0.275 distinguished mNGS from conventional detection methods（21/12 vs 5/28, P<0.001）. CONCLUSION: mNGS can not only contribute to accurately diagnosing bloodstream infection in patients with aplastic anemia, but can also help to guide accurate anti-infection treatment, and the clinical accuracy is high.