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中国马尔尼菲篮状菌检测的宏基因组下一代测序的临床实用性:一项回顾性研究。

Clinical usefulness of metagenomic next-generation sequencing for Talaromyces marneffei diagnosis in China: a retrospective study.

机构信息

State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, National Medical Center for Infectious Diseases, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Department of Laboratory Medicine, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

出版信息

Eur J Clin Microbiol Infect Dis. 2024 Jul;43(7):1367-1374. doi: 10.1007/s10096-024-04856-1. Epub 2024 May 27.

DOI:10.1007/s10096-024-04856-1
PMID:38801485
Abstract

PURPOSE

Metagenomic next-generation sequencing (mNGS) has been widely used in the diagnosis of infectious diseases. However, studies on Talaromyces marneffei detection using mNGS remain scarce. Therefore, this study aimed to explore the diagnostic performance of mNGS in T. marneffei.

METHODS

Between March 2021 and June 2023, patients who were discharged with a final diagnosis of talaromycosis, or confirmed T. marneffei infection by mNGS, culture or pathological examination were included in the study. Culture and mNGS were performed simultaneously for all patients. Clinical data were retrieved for analysis.

RESULTS

A total of 78 patients were enrolled, with 40 in the talaromycosis group and 38 in the suspected-talaromycosis group. In the talaromycosis group, mNGS showed a higher positivity rate(40/40, 100.0%) compared to culture(34/40, 85.0%)(P = 0.111). All patients in the suspected-talaromycosis group tested negative via culture, while mNGS yielded positive results. The T. marneffei reads in the talaromycosis group were significantly higher than in the suspected-talaromycosis group (4399 vs. 28, P < 0.001). In the suspected-talaromycosis group, of the four patients with low reads who did not receive antifungal therapy, one died and one lung lesion progressed; most patients(31/34, 91.2%) recovered after receiving appropriate antifungal therapy.

CONCLUSION

mNGS proves to be a rapid and highly sensitive method for detecting T. marneffei. Higher reads of T. marneffei correspond to a higher likelihood of infection. However, cases with low reads necessitate a comprehensive approach, integrating clinical manifestations, laboratory tests, and imaging examinations to confirm T. marneffei infection.

摘要

目的

宏基因组下一代测序(mNGS)已广泛应用于感染性疾病的诊断。然而,关于mNGS 检测马尔尼菲青霉的研究仍然很少。因此,本研究旨在探讨 mNGS 在马尔尼菲青霉检测中的诊断性能。

方法

本研究纳入了 2021 年 3 月至 2023 年 6 月出院时最终诊断为马尔尼菲青霉病或 mNGS、培养或病理检查证实为马尔尼菲青霉感染的患者。对所有患者同时进行培养和 mNGS。回顾性分析临床资料。

结果

共纳入 78 例患者,其中马尔尼菲青霉病组 40 例,疑似马尔尼菲青霉病组 38 例。在马尔尼菲青霉病组,mNGS 的阳性率(40/40,100.0%)明显高于培养(34/40,85.0%)(P=0.111)。疑似马尔尼菲青霉病组患者培养均为阴性,而 mNGS 阳性。马尔尼菲青霉病组的 T. marneffei 读数值明显高于疑似马尔尼菲青霉病组(4399 比 28,P<0.001)。在疑似马尔尼菲青霉病组中,4 例读数值较低且未接受抗真菌治疗的患者中,1 例死亡,1 例肺部病变进展;大多数患者(31/34,91.2%)接受适当抗真菌治疗后痊愈。

结论

mNGS 是一种快速、高度敏感的检测 T. marneffei 的方法。较高的 T. marneffei 读数值与更高的感染可能性相关。然而,读数值较低的病例需要综合考虑临床表现、实验室检查和影像学检查,以确认 T. marneffei 感染。

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