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应用宏基因组下一代测序技术鉴定胸腔积液的病因。

Application of the metagenomic next-generation sequencing technology to identify the causes of pleural effusion.

作者信息

Yan Zhiyun, Sun Cheng, Tang Wanna, Cao Weitao, Lv Jin, Liang Zhike, Wei Shuquan, Zhong Weinong, Zhao Ziwen, Zhao Zhuxiang, Li Yujun

机构信息

The First Clinical Medical College, Guangdong Medical University, Zhanjiang, China.

Department of Pulmonary and Critical Care Medicine, Guangzhou First People's Hospital, South China University of Technology, Guangzhou, China.

出版信息

Front Med (Lausanne). 2025 Mar 19;12:1525100. doi: 10.3389/fmed.2025.1525100. eCollection 2025.

DOI:10.3389/fmed.2025.1525100
PMID:40177267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11961432/
Abstract

BACKGROUND

Pleural effusion (PE), frequently encountered in clinical practice, can arise from a variety of underlying conditions. Accurate differential diagnosis of PE is crucial, as treatment and prognosis are heavily dependent on the underlying etiology. However, diagnosing the cause of PE remains challenging, relying on mycobacteriological methods that lack sensitivity and are time-consuming, or on histological examinations that require invasive biopsies. The recent advancements in metagenomic next-generation sequencing (mNGS) have shown promising applications in the diagnosis of infectious diseases. Despite this, there is limited research on the utility of mNGS as a comprehensive diagnostic tool for simultaneously identifying the causes of PE, particularly in cases of tuberculosis or malignancy.

METHODS

This study aimed to assess the efficacy of mNGS in detecting tuberculous pleural effusion (TPE) and malignant pleural effusion (MPE). A total of 35 patients with PE were included, and their PE samples were analyzed using mNGS.

RESULTS

Among the participants, 8 were ultimately diagnosed with TPE, and 10 were diagnosed with MPE, with lung adenocarcinoma being the most prevalent pathological type (50%, 5/10), according to established diagnostic criteria. Additionally, 7 patients were diagnosed with non-infectious PE. However, mNGS identified only 2 cases of TPE and 8 cases of MPE. The sensitivity of mNGS for detecting was 25% (2/8), while the specificity was 100%. For tumor detection, mNGS demonstrated a sensitivity of 80%, a specificity of 92.6%, and an AUC of 0.882.

CONCLUSION

mNGS is effective in distinguishing MPE from non-MPE, but is not suitable for diagnosing TPE.

摘要

背景

胸腔积液(PE)在临床实践中经常遇到,可由多种潜在疾病引起。准确鉴别诊断PE至关重要,因为治疗和预后很大程度上取决于潜在病因。然而,诊断PE的病因仍然具有挑战性,依赖于缺乏敏感性且耗时的分枝杆菌学方法,或需要侵入性活检的组织学检查。宏基因组下一代测序(mNGS)的最新进展在传染病诊断中显示出有前景的应用。尽管如此,关于mNGS作为同时识别PE病因的综合诊断工具的效用的研究有限,特别是在结核病或恶性肿瘤病例中。

方法

本研究旨在评估mNGS检测结核性胸腔积液(TPE)和恶性胸腔积液(MPE)的疗效。共纳入35例PE患者,并使用mNGS对其PE样本进行分析。

结果

根据既定诊断标准,参与者中8例最终被诊断为TPE,10例被诊断为MPE,肺腺癌是最常见的病理类型(50%,5/10)。此外,7例患者被诊断为非感染性PE。然而,mNGS仅识别出2例TPE和8例MPE。mNGS检测的敏感性为25%(2/8),而特异性为100%。对于肿瘤检测,mNGS的敏感性为80%,特异性为92.6%,AUC为0.882。

结论

mNGS在区分MPE与非MPE方面有效,但不适合诊断TPE。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/0df88cdbcbd4/fmed-12-1525100-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/9126bc085186/fmed-12-1525100-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/70f425ff075c/fmed-12-1525100-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/430e458e77a3/fmed-12-1525100-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/0df88cdbcbd4/fmed-12-1525100-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/9126bc085186/fmed-12-1525100-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/70f425ff075c/fmed-12-1525100-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/430e458e77a3/fmed-12-1525100-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef44/11961432/0df88cdbcbd4/fmed-12-1525100-g004.jpg

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本文引用的文献

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Diagnostic accuracy and microbial profiles of tuberculous pleurisy: a comparative study of metagenomic next generation sequencing and GeneXpert .
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