The role of mNGS in the diagnosis of talaromycosis and case series
Abstract Background Talaromycosis is a rare fungal infection characterized by non-specific clinical features, often resulting in misdiagnosis. This study aimed to analyze four classic cases of Talaromyces marneffei infection diagnosed using metagenomic next-generation sequencing (mNGS) to improve un...
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BMC
2025-02-01
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| Series: | BMC Infectious Diseases |
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| Online Access: | https://doi.org/10.1186/s12879-025-10529-x |
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| author | Jing Zhao Hui-Ting Su Dong Zhang Xue-Tong Li Min-Ya Lu Juan Du Jia-Yu Guo Yi Gao Xin-Fei Chen Dong-Hua Wen Shi-Yu Jia Yao Wang Qi-Wen Yang |
| author_facet | Jing Zhao Hui-Ting Su Dong Zhang Xue-Tong Li Min-Ya Lu Juan Du Jia-Yu Guo Yi Gao Xin-Fei Chen Dong-Hua Wen Shi-Yu Jia Yao Wang Qi-Wen Yang |
| author_sort | Jing Zhao |
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| description | Abstract Background Talaromycosis is a rare fungal infection characterized by non-specific clinical features, often resulting in misdiagnosis. This study aimed to analyze four classic cases of Talaromyces marneffei infection diagnosed using metagenomic next-generation sequencing (mNGS) to improve understanding of its diagnosis and treatment. Methods This study retrospectively analyzed cases of T. marneffei identified through mNGS at Peking Union Medical College Hospital. Four confirmed cases of talaromycosis were selected based on clinical diagnoses, supplemented by a review of relevant literature. We reviewed and compared the clinical features, laboratory indicators, treatment regimens, and outcomes of these cases, which exhibited varied characteristics. Results Among the four patients, two were human immunodeficiency virus (HIV)-positive, and two were HIV-negative. All the participants presented with fever and varying respiratory symptoms, with distinct clinical characteristics aiding diagnosis. Three cases exhibited significant pulmonary infection lesions. Both HIV-positive patients showed T. marneffei bloodstream dissemination and suffered mixed infection with virus. Within them, one case was positive in blood culture, blood mNGS and sputum culture. Another case was positive in blood and bone marrow cultures, brain tissue culture and mNGS. They were both treated with voriconazole and improved. Both HIV-negative patients were T. marneffei positive for BALF mNGS, and only one of them was positive for BALF culture. One of them was mix infected by fungi, bacteria, Mycobacterium tuberculosis and virus, improved by voriconzole and followed by introconaole. The other case was cured by introconazole. Conclusions Traditional diagnostic methods are limited by factors such as the long time and low sensitivity of fungal culture, the effect of prior antibiotic treatment, the invasiveness and complexities of tissue biopsies, and so on. Emerging technologies, particularly mNGS, offer advantages such as rapid processing, high accuracy, and comprehensive pathogen coverage, significantly reducing the risk of missed diagnoses and facilitating timely intervention. |
| format | Article |
| id | doaj-art-1849d3f4efee4f20ad3e38f8fdfcc45b |
| institution | Kabale University |
| issn | 1471-2334 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Infectious Diseases |
| spelling | doaj-art-1849d3f4efee4f20ad3e38f8fdfcc45b2025-02-09T12:14:54ZengBMCBMC Infectious Diseases1471-23342025-02-0125111210.1186/s12879-025-10529-xThe role of mNGS in the diagnosis of talaromycosis and case seriesJing Zhao0Hui-Ting Su1Dong Zhang2Xue-Tong Li3Min-Ya Lu4Juan Du5Jia-Yu Guo6Yi Gao7Xin-Fei Chen8Dong-Hua Wen9Shi-Yu Jia10Yao Wang11Qi-Wen Yang12Department of Clinical Laboratory, Beijing Aerospace General HospitalDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Laboratory Medicine, Shanghai East Hospital, Tongji University School of MedicineDepartment of Laboratory Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeAbstract Background Talaromycosis is a rare fungal infection characterized by non-specific clinical features, often resulting in misdiagnosis. This study aimed to analyze four classic cases of Talaromyces marneffei infection diagnosed using metagenomic next-generation sequencing (mNGS) to improve understanding of its diagnosis and treatment. Methods This study retrospectively analyzed cases of T. marneffei identified through mNGS at Peking Union Medical College Hospital. Four confirmed cases of talaromycosis were selected based on clinical diagnoses, supplemented by a review of relevant literature. We reviewed and compared the clinical features, laboratory indicators, treatment regimens, and outcomes of these cases, which exhibited varied characteristics. Results Among the four patients, two were human immunodeficiency virus (HIV)-positive, and two were HIV-negative. All the participants presented with fever and varying respiratory symptoms, with distinct clinical characteristics aiding diagnosis. Three cases exhibited significant pulmonary infection lesions. Both HIV-positive patients showed T. marneffei bloodstream dissemination and suffered mixed infection with virus. Within them, one case was positive in blood culture, blood mNGS and sputum culture. Another case was positive in blood and bone marrow cultures, brain tissue culture and mNGS. They were both treated with voriconazole and improved. Both HIV-negative patients were T. marneffei positive for BALF mNGS, and only one of them was positive for BALF culture. One of them was mix infected by fungi, bacteria, Mycobacterium tuberculosis and virus, improved by voriconzole and followed by introconaole. The other case was cured by introconazole. Conclusions Traditional diagnostic methods are limited by factors such as the long time and low sensitivity of fungal culture, the effect of prior antibiotic treatment, the invasiveness and complexities of tissue biopsies, and so on. Emerging technologies, particularly mNGS, offer advantages such as rapid processing, high accuracy, and comprehensive pathogen coverage, significantly reducing the risk of missed diagnoses and facilitating timely intervention.https://doi.org/10.1186/s12879-025-10529-xTalaromycosis marneffeiDiagnosismNGSHIV and non-HIV infected patients |
| spellingShingle | Jing Zhao Hui-Ting Su Dong Zhang Xue-Tong Li Min-Ya Lu Juan Du Jia-Yu Guo Yi Gao Xin-Fei Chen Dong-Hua Wen Shi-Yu Jia Yao Wang Qi-Wen Yang The role of mNGS in the diagnosis of talaromycosis and case series BMC Infectious Diseases Talaromycosis marneffei Diagnosis mNGS HIV and non-HIV infected patients |
| title | The role of mNGS in the diagnosis of talaromycosis and case series |
| title_full | The role of mNGS in the diagnosis of talaromycosis and case series |
| title_fullStr | The role of mNGS in the diagnosis of talaromycosis and case series |
| title_full_unstemmed | The role of mNGS in the diagnosis of talaromycosis and case series |
| title_short | The role of mNGS in the diagnosis of talaromycosis and case series |
| title_sort | role of mngs in the diagnosis of talaromycosis and case series |
| topic | Talaromycosis marneffei Diagnosis mNGS HIV and non-HIV infected patients |
| url | https://doi.org/10.1186/s12879-025-10529-x |
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