The diagnostic value of targeted next-generation sequencing for smear-negative and sputum-scarce pulmonary tuberculosis.

OBJECTIVE

To evaluate the diagnostic performance of targeted next-generation sequencing (tNGS) in pulmonary tuberculosis (PTB).

METHODS

This retrospective study included 164 suspected PTB patients admitted to Anhui Chest Hospital between October 2022 and October 2024. All patients were smear-negative or sputum-scarce. Clinical specimens were tested simultaneously with tNGS, SAT-TB, GeneXpert MTB/RIF, and Mycobacterium tuberculosis (MTB) culture.

RESULTS

Among 108 diagnosed PTB patients, the sensitivity of tNGS was significantly superior to that of other methods. The negative predictive value (NPV) and accuracy of tNGS were 66.67% and 82.93%, which were superior to other methods. In bronchoalveolar lavage fluid (BALF) specimens, the positive detection rate of tNGS reached 48.12%, significantly higher than that of other methods (P<0.0001). In pleural effusion specimens, the positive detection rate of tNGS was 38.10%, which was significantly better than that of SAT-TB and GeneXpert MTB/RIF (P<0.01). ROC curve analysis showed that the AUC value of tNGS reached 0.87, significantly higher than that of the culture method, GeneXpert MTB/RIF, and SAT-TB. The combined detection strategy further increased the sensitivity to 79.63%, and the overall diagnostic accuracy reached 86.59%.

CONCLUSIONS

tNGS demonstrates superior diagnostic performance for tuberculosis diagnosis, particularly in alternative specimens such as BALF and pleural effusion.