怀疑瘤患者mNGS的诊断价值:一个观察性研究
1Department of General Practice, The Third Affiliated Hospital of Sun Yat-Sen, University Lingnan Hospital, Guangzhou, Guangdong Province, People's Republic of China.
Medicine
|February 13, 2026
概括
用副本数变异 (CNV) 分析的元基因组下一代测序 (mNGS) 可以在其他方法失败时检测疑似感染的患者的瘤. 这种方法有助于诊断潜在的恶性瘤,包括血液癌症.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 传染性疾病 传染性疾病
背景情况:
- 传统的诊断方法可能无法在出现感染症状的患者中识别瘤.
- 基因组学下一代测序 (mNGS) 为检测病原体和宿主基因组改变提供了一种潜在的双重方法.
研究的目的:
- 评估基于mNGS的副本数变异 (CNV) 分析在疑似感染患者中识别潜在瘤的实用性.
- 评估 CNV 分析在诊断恶性瘤方面的准确性,特别是当传统方法无法得出结论时.
主要方法:
- 对疑似感染的患者进行回顾性分析,同时进行mNGS和染色体CNV分析.
- 包括9名具有积极瘤信号的患者,在有癌症病史的患者中进行验证.
主要成果:
- CNV分析有助于诊断最初怀疑感染的患者的瘤.
- 没有先前瘤病史的五分之三的患者被诊断出患有血液性恶性瘤.
- 所有患有活跃瘤的患者都表现出显著的CNV异常信号,包括动质积分和细分重复/删除.
结论:
- 基于mNGS的CNV分析表明,在疑似感染的患者中检测潜在瘤具有显著的临床价值.
- 这种方法为识别恶性瘤提供了强大的工具,特别是在常规诊断结果为负的复杂病例中.
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