临床宏基因组学的产出：组织感染实际应用中的见解
Yield of clinical metagenomics: insights from real-world practice for tissue infections.
作者信息
Tang Hui, Chen Yuqing, Tang Xinyan, Wei Muyun, Hu Juan, Zhang Xuan, Xiang Dairong, Yang Qing, Han Dongsheng
机构信息
Department of Pathology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, PR China.
Department of Laboratory Medicine, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, PR China; Zhejiang Key Laboratory of Clinical in Vitro Diagnostic Techniques, Hangzhou, 310003, PR China; Institute of Laboratory Medicine, Zhejiang University, Hangzhou, 310003, PR China.
出版信息
EBioMedicine. 2025 Jan;111:105536. doi: 10.1016/j.ebiom.2024.105536. Epub 2024 Dec 26.
BACKGROUND
While metagenomic next-generation sequencing (mNGS) has been acknowledged as a valuable diagnostic tool for infections, its clinical validity and impact on patient management when using fresh tissue samples remains uncertain.
METHODS
We conducted a retrospective cross-sectional study involving patients who underwent tissue mNGS at a tertiary hospital in China from February 2021 to February 2024, aiming to assess its ability to detect plausible pathogens and its clinical validity and impact.
FINDINGS
A total of 520 mNGS results from 508 patients were analysed, detecting plausible pathogens in 302 (58.1%) tests, including 260 single-pathogen and 42 (13.9%) multi-pathogen results. Rare pathogens, such as Balamuthia mandrillaris, Bartonella henselae, and Sporothrix globosa, were identified. Of the multi-pathogen results, 22 were with predominance of anaerobes. mNGS showed higher positivity in cases with high initial suspicion of infection than those used for ruling out infection (PR 1.961, 95% CI: 1.604-2.394) and in patients living with HIV (PR 1.312, 95% CI: 1.047-1.643) or solid organ transplant recipients (PR 1.346, 95% CI: 1.103-1.643) compared to immunocompetent individuals. Sensitivity and specificity for diagnosing confirmed/probable infections were 85.0% (95% CI: 76.7%-93.3%) and 93.7% (95% CI: 86.8%-100.0%), respectively. mNGS influenced clinical management in 258 (49.6%) cases by identifying new infections and in 112 (21.5%) by excluding infections. It prompted initiation (20.2%), modification (23.1%), or discontinuation (6.3%) of antimicrobial therapy.
INTERPRETATION
mNGS demonstrates high diagnostic accuracy for tissue infections. Its impact on clinical management highlights the need to integrate it into current diagnostic practices.
FUNDING
National Natural Science Foundation of China (No. 82472371), "Leading Geese" Research and Development Plan of Zhejiang Province (No. 2024C03218), and Pudong New Area Joint Project (PW2021D-09).
背景
虽然宏基因组下一代测序（mNGS）已被公认为是一种用于感染诊断的重要工具，但其在使用新鲜组织样本时的临床有效性及其对患者管理的影响仍不明确。
方法
我们进行了一项回顾性横断面研究，纳入了2021年2月至2024年2月在中国一家三级医院接受组织mNGS检测的患者，旨在评估其检测可能病原体的能力及其临床有效性和影响。
结果
共分析了508例患者的520份mNGS结果，在302份（58.1%）检测中检测到可能的病原体，包括260份单病原体结果和42份（13.9%）多病原体结果。鉴定出了罕见病原体，如曼氏巴贝斯虫、汉赛巴尔通体和球形孢子丝菌。在多病原体结果中，22份以厌氧菌为主。mNGS在初始高度怀疑感染的病例中比用于排除感染的病例具有更高的阳性率（PR 1.961，95%CI：1.604 - 2.394），并且与免疫功能正常的个体相比，在艾滋病毒感染者（PR 1.312，95%CI：1.047 - 1.643）或实体器官移植受者中也具有更高的阳性率（PR 1.346，95%CI：1.103 - 1.643）。诊断确诊/疑似感染的敏感性和特异性分别为85.0%（95%CI：76.7% - 93.3%）和93.7%（95%CI：86.8% - 100.0%）。mNGS在258例（49.6%）病例中通过识别新感染影响了临床管理，在112例（21.5%）病例中通过排除感染影响了临床管理。它促使启动（20.2%）、调整（23.1%）或停止（6.3%）抗菌治疗。
解读
mNGS对组织感染显示出较高的诊断准确性。其对临床管理的影响凸显了将其纳入当前诊断实践的必要性。
资助
中国国家自然科学基金（项目编号：82472371）、浙江省“尖兵”研发计划（项目编号：2024C03218）和浦东新区联合项目（项目编号：PW2021D - 09）。
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