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A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma 期刊论文

编号：

D81BBBD4C06D49280C1092F8F72E3766
作者：

Song, Pingping(宋平平)#^[1]Tian, Yaxian(田雅娴)#^[2]Chen, Shuai#^[3]Zhang, Sheng^[4];Li, Xuan(李轩)^[5]You, Zhiqing(游志庆)^[1]Fu, Juanjuan(付娟娟)^[1]Xu, Wenbin(许文彬)^[1]Li, Zhen(李振)^[1]Luan, Jing(栾静)^[6]Zhao, Qigang(赵岐刚)^[1]Wang, Chengtan(王成坦)*^[1]Pang, Feng(庞峰)*^[1]
语种：

英文
期刊：

CLINICA CHIMICA ACTA ISSN：0009-8981 2024 年 557 卷 ; APR 15
收录：
关键词：

Hematological tumor Pathogen Copy number variation Metagenomic next -generation sequencing
摘要：

Background: Metagenomic next -generation sequencing (mNGS) is valuable for pathogen identification; however, distinguishing between infectious diseases and conditions with potentially similar clinical manifestations, including malignant tumors, is challenging. Therefore, we developed a method for simultaneous detection of infectious pathogens and cancer in blood samples.
Methods: Plasma samples (n = 244) were collected from 150 and 94 patients with infections and hematological malignancies, respectively, and analyzed by mNGS for pathogen detection, alongside human tumor chromosomal copy number variation (CNV) analysis ( >= 5Mbp or 10Mbp CNV region). Further, an evaluation set, comprising 87 plasma samples, was analyzed by mNGS and human CNV analysis, to validate the feasibility of the method. Results: Among 94 patients with hematological malignancy, sensitivity values of CNV detection for tumor diagnosis were 69.15 % and 32.98 % for CNV region 5Mbp and 10Mbp, respectively, with corresponding specificities of 92.62 % and 100 % in the infection group. Area under the ROC curve (AUC) values for 5Mbp and 10Mbp region were 0.825 and 0.665, respectively, which was a significant difference of 0.160 (95 % CI: 0.110 -0.210; p < 0.001), highlighting the superiority of 5Mbp output region data. Six patients with high -risk CNV results were identified in the validation study: three with history of tumor treatment, two eventually newly -diagnosed with hematological malignancies, and one with indeterminate final diagnosis.
Conclusions: Concurrent CNV analysis alongside mNGS for infection diagnosis is promising for detecting malignant tumors. We recommend adopting a CNV region of 10Mbp over 5Mbp for our model, because of the lower false -positive rate (FPR).
推荐引用方式
GB/T 7714：

Song Pingping,Tian Yaxian,Chen Shuai, et al. A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma [J].CLINICA CHIMICA ACTA,2024,557.
APA：

Song Pingping,Tian Yaxian,Chen Shuai,Zhang Sheng,&Pang Feng.(2024).A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma .CLINICA CHIMICA ACTA,557.
MLA：

Song Pingping, et al. "A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma" .CLINICA CHIMICA ACTA 557(2024).
入库时间：

5/22/2024 11:34:27 PM
更新时间：

12/11/2024 9:22:58 PM
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