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在组织中检测不偏见的DNA病原体:在病理学中使用元基因组测序的现实世界经验

Baptiste Hamelin¹, Salome Hosch¹, Claudio Neidhöfer²

¹Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland; Department of Biomedicine, University of Basel, Basel, Switzerland; Center for Infectious Disease Diagnostics, University Hospital Basel, Basel, Switzerland.

Laboratory investigation; a journal of technical methods and pathology

|October 30, 2025

概括

下一代元基因组测序 (mNGS) 是一种可行的诊断工具,用于识别甲固定嵌入 (FFPE) 组织中的病原体. 这种方法提高了感染病理学中的病原体检测,为传统PCR提供了有价值的替代方案.

科学领域:

临床诊断临床诊断临床诊断
传染病病理学传染病病理学
分子诊断学分子诊断学

背景情况:

在甲固定嵌 (FFPE) 组织中检测病原体带来了重大诊断挑战.
传统方法在敏感度和病原体覆盖范围方面可能存在局限性.
下一代元基因组测序 (mNGS) 为全面的病原体鉴定提供了一个潜在的解决方案.

研究的目的:

在常规传染病理学中评估mNGS的可行性,诊断产量和病原体谱.
为了评估mNGS在甲固定嵌 (FFPE) 组织样本中的性能.
将mNGS与检测病原体的常规诊断方法进行比较.

主要方法:

使用Thermo Fisher Ion Torrent平台实现了一个低深度的mNGS工作流.
在2021年11月至2025年4月期间,共分析了623个FFPE组织样本.
结果被验证使用正交方法,如PCR和免疫组织化学,如果可能的话.

主要成果:

mNGS在36.8%的FFPE样本中发现了至少一个潜在的致病微生物.
细菌是最常见的病原体 (63.3%),其次是病毒 (16.2%),真菌 (12.2%),寄生虫 (3.9%).
菌群Mycobacteriaceae是发现的最常见的细菌家族;新型病毒和真菌病原体也被检测到.

结论:

下一代元基因组测序 (mNGS) 是常规传染病理诊断的可行和有价值的补充.
该试验表明,与传统PCR相比,诊断产量有所提高,病原体检测能力扩大.
mNGS 对于 FFPE 样品证明强大,支持其在基于组织的病原体诊断中更广泛地采用.

关键词:

临床的元基因组学甲固态氨酸嵌入式组织这是下一代测序.病原体检测病原体检测病原体检测病理学的病理学

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