宏基因组高通量测序技术在中枢神经系统感染性疾病中的临床价值分析

陆旻雅; 郭佳钰; 张栋; 苏慧婷; 高弈; 赵颖; 杨启文; 徐英春

doi:10.12290/xhyxzz.2023-0293

宏基因组高通量测序技术在中枢神经系统感染性疾病中的临床价值分析

Analysis of the Clinical Value of Metagenomic Next-generation Sequencing in Central Nervous System Infection

摘要

摘要:
目的探讨宏基因组高通量测序(metagenomic next-generation sequencing，mNGS)技术在中枢神经系统感染性疾病诊断中的临床价值。
方法依托中国医学科学院北京协和医院感染性疾病宏基因组检测平台，回顾性分析2022年4—12月临床诊断为中枢神经系统感染性疾病患者的临床信息、常规实验室检测结果及mNGS结果等相关资料，评价mNGS技术在中枢神经系统感染性疾病诊断中的价值。
结果在39例临床诊断为中枢神经系统感染性疾病的患者中，29例(74.4%)检出疑似致病病原体特异性序列，其中11例(37.9%)检出细菌，13例(44.8%)检出病毒，3例(10.3%)检出真菌，1例(3.5%)检出细菌及病毒，1例(3.5%)检出真菌及病毒，真阳性率为74.4%。10例报告阴性结果，假阴性率为25.6%。mNGS技术的阳性率明显高于临床常规病原学检查(包括脑脊液涂片、培养、病原体抗原及核酸聚合酶链式反应)的阳性率(74.4% 比23.7%)。
结论相较于现有的临床常规病原学检查手段，mNGS技术在中枢神经系统感染性疾病诊断中具有更高的真阳性率，可能有助于中枢神经系统感染性疾病的早期诊断。

Abstract:
Objective To evaluate the clinical value of metagenomic next-generation sequencing (mNGS) technology in the central nervous system (CNS) infection.
Methods Utilizing the Infectious Disease Metagenomic Testing Platform at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, we conducted a retrospective analysis of clinical data, routine laboratory test results, and mNGS results of patients diagnosed with infectious CNS diseases from April to December 2022. The aim was to assess the diagnostic significance of mNGS technology in CNS infection.
Results Among 39 patients clinically with CNS infection, suspected pathogenic microorganism-specific sequences were detected in 29 cases (74.4%). Among them, 11 cases (37.9%) were positive for bacteria, 13 cases (44.8%) for viruses, 3 cases (10.3%) for fungi, 1 case (3.5%) for both bacteria and viruses, and 1 case (3.5%) for both fungi and viruses, yielding a positivity rate of 74.4%. Ten cases reported negative results, resulting in a false-negative rate of 25.6%. The positivity rate of mNGS was significantly higher than that of conventional clinical pathogen detection methods (including cerebrospinal fluid smears, cultures, pathogen antigens, and nucleic acid polymerase chain reactions), with rates of 74.4% compared to 23.7%, respectively.
Conclusions Compared to available conventional clinical pathogen detection methods, mNGS technology demonstrates a higher positivity rate in the diagnosis of infectious CNS diseases. This advancement could potentially contribute to the early diagnosis of CNS infection.

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