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靶向二代测序与传统检测方法对骨髓抑制血液病患者呼吸道感染诊断效能的前瞻性研究

Prospective study on diagnostic efficacy of targeted NGS vs. traditional testing for respiratory infections in myelosuppressed hematology patients.

作者信息

Li Chen, Wu Jing, Feng Yuhu

机构信息

Department of Hematology, Fuyang People's Hospital (The Affiliated Fuyang People's Hospital of Anhui Medical University), Fuyang, China.

Department of Hematology, The Second Affiliated Hospital of Chengdu Medical College, China National Nuclear Corporation Hospital 416, Chengdu, China.

出版信息

Front Med (Lausanne). 2025 Mar 12;12:1488652. doi: 10.3389/fmed.2025.1488652. eCollection 2025.

Abstract

BACKGROUND

Respiratory tract infections are a significant complication in myelosuppressed hematological patients, especially those with myelosuppression. Traditional microbiological testing methods often show limitations in sensitivity, turnaround time, and cost, making them less effective in this vulnerable population. This study aimed to evaluate the diagnostic efficacy of targeted next-generation sequencing (tNGS) compared to traditional microbiological testing methods (TMT) in detecting respiratory infections among myelosuppressed hematological patients.

METHODS

This prospective study included 20 patients aged ≥15 years with myelosuppressed hematological disease and respiratory infection, admitted to the hematology department of Fuyang People's Hospital between January and May 2024. Eligible patients underwent both 198-pathogen respiratory tract infection targeted NGS panel (198-pathogen RTI tNGS panel) and TMT. Exclusion criteria included refusal of tNGS or incomplete sputum collection. The diagnostic performance of 198-pathogen RTI tNGS panel was assessed against TMT, with diagnoses confirmed by three independent hematology experts. The study adhered to ethical guidelines and obtained informed consent from all participants.

RESULTS

tNGS demonstrated a 100% pathogen detection rate compared to 40% with traditional testing ( < 0.001). It identified a broader spectrum of pathogens, including bacteria, viruses, and fungi, many of which were missed by TMT. The most common pathogens isolated in the clinical specimens detected by TMT was . The most common pathogens isolated in the clinical specimens detected by 198-pathogen RTI tNGS was , , and . The sensitivity of tNGS was 94.74%, with a positive predictive value of 100%. The turnaround time for tNGS was significantly shorter, averaging 24 h, enabling quicker adjustments to antimicrobial therapy. In 75% of cases, the tNGS results directly influenced changes in treatment regimens, improving clinical outcomes.

CONCLUSION

tNGS offers superior sensitivity, a broader pathogen detection range, and a faster turnaround time compared to traditional microbiological testing methods. It provides a practical and efficient diagnostic option for respiratory infections in hematological patients, particularly those unable to undergo invasive procedures such as bronchoalveolar lavage. The use of tNGS may enhance clinical management and improve patient outcomes in this population.

摘要

背景

呼吸道感染是骨髓抑制的血液病患者尤其是那些存在骨髓抑制的患者的一种重要并发症。传统微生物检测方法在敏感性、周转时间和成本方面常常显示出局限性,使其在这一脆弱人群中效果欠佳。本研究旨在评估靶向二代测序(tNGS)与传统微生物检测方法(TMT)相比在检测骨髓抑制的血液病患者呼吸道感染中的诊断效能。

方法

这项前瞻性研究纳入了2024年1月至5月期间在阜阳市人民医院血液科住院的年龄≥15岁的患有骨髓抑制血液病且伴有呼吸道感染的患者。符合条件的患者同时接受198种病原体呼吸道感染靶向NGS检测(198种病原体RTI tNGS检测)和TMT检测。排除标准包括拒绝tNGS检测或痰液采集不完整。198种病原体RTI tNGS检测的诊断性能以TMT检测为对照进行评估,诊断由三位独立的血液学专家确认。本研究遵循伦理准则并获得了所有参与者的知情同意。

结果

与传统检测的40%相比,tNGS的病原体检测率为100%(<0.001)。它鉴定出了更广泛的病原体谱,包括细菌、病毒和真菌,其中许多是TMT检测遗漏的。TMT检测在临床标本中分离出的最常见病原体是 。198种病原体RTI tNGS检测在临床标本中分离出的最常见病原体是 、 和 。tNGS的敏感性为94.74%,阳性预测值为100%。tNGS的周转时间显著更短,平均为24小时,能够更快地调整抗菌治疗方案。在75%的病例中,tNGS结果直接影响了治疗方案的改变,改善了临床结局。

结论

与传统微生物检测方法相比,tNGS具有更高的敏感性、更广泛的病原体检测范围和更快的周转时间。它为血液病患者的呼吸道感染提供了一种实用且高效的诊断选择,尤其是对于那些无法接受诸如支气管肺泡灌洗之类侵入性操作的患者。tNGS的应用可能会加强这一人群的临床管理并改善患者结局。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e7a/11936813/5ec3af4647e1/fmed-12-1488652-g001.jpg

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