同时诊断结核性多叶病和恶性多叶流液使用元基因组下一代测序 (mNGS)
Fudong Xu1, Qingfeng Wang2, Nana Zhang1
1Department of Pathology, Beijing Tuberculosis and Thoracic Tumor Research Institute, Beijing Chest Hospital, Capital Medical University, No. 9 Beiguan Street, Tongzhou District, Beijing, 101149, China.
Journal of translational medicine
|September 30, 2023
概括
下一代元基因组测序 (mNGS) 可以同时检测结核性肺炎 (TBP) 和恶性肺 (MPE). 在mNGS样本中分析人类DNA为诊断这些疾病提供了一种新的方法.
科学领域:
- 基因组学和生物信息学
- 传染病诊断 传染病诊断 传染病诊断
- 在瘤学瘤学.
背景情况:
- 甲基因组下一代测序 (mNGS) 是一种强大的病原体检测工具.
- 人类测序在mNGS数据中的诊断价值经常被低估.
- 流 (PE) 存在诊断挑战,结核性流 (TBP) 和恶性流 (MPE) 是关键的差异诊断.
研究的目的:
- 评估mNGS在从肺部溢液样本同时检测TBP和MPE中的实用性.
- 探索分析人类基因组特征的潜力,特别是复制数变异 (CNVs),用于使用mNGS数据识别MPE.
- 将mNGS用于TBP检测的诊断性能与已建立的临床试验进行比较.
主要方法:
- mNGS分析对138个从患有TBP (N=82),MPE (N=35) 或非TB感染 (N=21) 的患者的肺液样本进行了分析.
- 使用25个非MPE样本建立了人类染色体拷贝数的基线.
- 针对来自113个样本的CNV特征 (35个MPE,78个非MPE) 进行了通用线性建模,用于MPE预测,用于绩效评估则采用了离开一次的交叉验证 (LOOCV).
主要成果:
- mNGS在49%的TBP病例中检测到结核病基因组,具有100%的特异性,在这个队列中超过培养 (32%),AFB测试 (12%) 和Xpert (35%).
- 与其他结核病测试相比,T-SPOT的灵敏度更高 (61%),但假阳性率也更高 (10%).
- 基于CNV的MPE预测模型实现了54.1%的灵敏度,80.8%的特异性,71.7%的准确性和0.851.1%的AUC.
结论:
- 包含人类和非人类测序读数的mNGS数据表明,TBP和MPE的同时诊断具有显著的潜力.
- 从mNGS获得的人类基因组CNV特征的分析为MPE识别提供了一个有前途的辅助方法.
- 这项研究强调了人类DNA测序在mNGS中读取的价值不足,用于全面的多叶流血诊断.
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