靶向二代测序在少菌型肺结核诊断及鉴别诊断中的价值

The value of targeted next-generation sequencing in the diagnosis and differential diagnosis of paucibacillary pulmonary tuberculosis.

作者信息

Qianfang Hu, Yan Liu, Yuhan Chen, Houyu Zhong, Tao Wan

机构信息

Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

出版信息

Diagn Microbiol Infect Dis. 2025 Sep;113(1):116866. doi: 10.1016/j.diagmicrobio.2025.116866. Epub 2025 Apr 22.

DOI:10.1016/j.diagmicrobio.2025.116866

PMID:40311450

Abstract

BACKGROUND

The diagnostic utility of broad-spectrum pathogen-specific targeted next-generation sequencing (tNGS) for paucibacillary pulmonary tuberculosis (PTB) in general hospital settings remains insufficiently characterized compared to validated Mycobacterium-specific tNGS.

OBJECTIVE

To investigate the clinical value of broad-spectrum pathogen-specific tNGS in diagnosing and differentially diagnosing paucibacillary PTB in real-world clinical practice.

METHODS

This retrospective study analyzed data from 423 patients admitted to the First Affiliated Hospital of Chongqing Medical University from January 1, 2024, to October 31, 2024. Patients underwent bronchoalveolar lavage fluid (BALF) testing, including acid-fast staining, culture, Xpert MTB/RIF, and tNGS. 47 participants were excluded based on predefined criteria.

RESULTS

Among 83 microbiologically confirmed PTB cases, tNGS exhibited significantly higher sensitivity compared to Xpert and culture (91.6 % vs. 79.5 % for Xpert and 73.5 % for culture; p<0.001), albeit with marginally lower specificity than Xpert (95.6 % vs. 98.6 %; p=0.01). For 293 non-TB patients, tNGS detected pathogens in 86.7 % (254/293) of BAL samples, identifying 300 pathogens with 47.3 % (142/300) concordance to clinical diagnoses.

CONCLUSION

Broad-spectrum pathogen-specific tNGS demonstrated enhanced sensitivity for diagnosing paucibacillary PTB but slightly reduced specificity relative to Xpert. While it achieved high pathogen detection rates in non-TB pulmonary diseases, its concordance with clinical diagnoses was suboptimal.

摘要

背景

与经过验证的分枝杆菌特异性靶向新一代测序（tNGS）相比，综合医院环境中用于少菌型肺结核（PTB）的广谱病原体特异性靶向新一代测序（tNGS）的诊断效用仍未得到充分表征。

目的

探讨广谱病原体特异性tNGS在实际临床实践中诊断和鉴别诊断少菌型PTB的临床价值。

方法

这项回顾性研究分析了2024年1月1日至2024年10月31日入住重庆医科大学附属第一医院的423例患者的数据。患者接受了支气管肺泡灌洗 fluid（BALF）检测，包括抗酸染色、培养、Xpert MTB/RIF和tNGS。根据预定义标准排除了47名参与者。

结果

在83例微生物学确诊的PTB病例中，tNGS的敏感性显著高于Xpert和培养（Xpert为79.5%，培养为73.5%，tNGS为91.6%；p<0.001），尽管特异性略低于Xpert（95.6%对98.6%；p=0.01）。对于293例非结核患者，tNGS在86.7%（254/293）的BAL样本中检测到病原体，鉴定出300种病原体，其中47.3%（142/300）与临床诊断一致。