Joint application of metagenomic next-generation sequencing and histopathological examination for the diagnosis of pulmonary infectious disease

ABSTRACT The diagnosis of some pulmonary infectious diseases and their pathogens is very difficult. We clarified the diagnostic value of the joint application of metagenomic next-generation sequencing (mNGS) and histopathological examination for the diagnosis of pulmonary infectious diseases in this study. We retrospectively enrolled 108 patients with infectious and noninfectious diseases who visited the West China Hospital of Sichuan University from January 2019 to June 2022. Pathogens in core needle biopsy tissue were detected using mNGS and traditional pathological examination. The diagnostic accuracy of the combined mNGS and histopathology protocol for pulmonary infectious diseases was contrasted with that of histopathological examination alone. The area under the receiver operating characteristic curve (ROC curve) of mNGS combined with histopathological examination was 0.840 for pulmonary infectious diseases, and the area under the ROC curve of histopathological examination alone was 0.644. The areas under the ROC curve of mNGS combined with histopathological examination for pulmonary fungal infection, pulmonary tuberculosis, and lung abscess were 0.876, 0.875, and 0.840, respectively. In pulmonary infectious diseases, the areas under the ROC curve of histopathological examination alone for the above three types of pulmonary infections were 0.760, 0.719, and 0.575, respectively. For pulmonary infectious diseases, a joint application of metagenomic next-generation sequencing and histopathological examination can not only be used for differential diagnosis but also increase the positive rate of pathogen identification compared with histopathological examination alone, especially for rare pathogen infections. IMPORTANCE The diagnosis of some pulmonary infectious diseases and their pathogens is very difficult. A more precise diagnosis of pulmonary infectious diseases can help clinicians use proper antibiotics as well as reduce the development of drug-resistant bacteria. In this study, we performed both mNGS and pathology on lung puncture biopsy tissue from patients and found that combined mNGS and histopathology testing was significantly more effective than histopathology testing alone in detecting infectious diseases and identifying infectious diseases. In addition, the combined approach improves the detection rate of pathogenic microorganisms in infectious diseases and can be used to guide precision clinical treatment.