Advancing pathogen and tumor copy number variation detection through simultaneous metagenomic next-generation sequencing: A comprehensive review
Xiaofang Xie,
Xiaotong Xi,
Dan Zhao,
Yingyue Zhao,
Tiantian Yi,
Dongsheng Chen,
Rui Liu,
Lin Qi,
Zhen Pan,
Hongqiu Wang,
Haifang Zhang,
Ran Ding,
Hong Du
Affiliations
Xiaofang Xie
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China; MOE Key Laboratory of Geriatric Diseases and Immunology, Suzhou Medical College, Soochow University, China
Xiaotong Xi
Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, China; Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China
Dan Zhao
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Yingyue Zhao
Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, China; Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China
Tiantian Yi
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Dongsheng Chen
Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, China; Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China
Rui Liu
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Lin Qi
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Zhen Pan
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Hongqiu Wang
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Haifang Zhang
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China
Ran Ding
Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical Laboratory Science Co., Ltd., The State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, China; Cancer Center, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China; Corresponding author. State Key Laboratory of Neurology and Oncology Drug Development (Jiangsu Simcere Pharmaceutical Co., Ltd., Jiangsu Simcere Diagnostics Co., Ltd.), China.
Hong Du
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, China; Corresponding author.
In clinical practice, timely and accurate diagnosis can effectively reduce unnecessary treatment, avoid high medical costs, and prevent adverse prognoses. However, some patients with malignant tumors and those with infection often exhibit similar symptoms, which are difficult to distinguish, posing challenges in accurate clinical diagnosis. Metagenomic next-generation sequencing (mNGS) technology has been widely applied to confirm the source of infection. Recent studies have shown that for pathogen detection, mNGS technology can be used to perform chromosomal copy number variations (CNVs) analysis in two different analytical pipelines using the same wet test. mNGS technology has further demonstrated its utility in not only the determination of pathogenic microorganisms but also of CNVs, thereby facilitating early differential diagnosis for malignant tumors. In this review, we aim to analyze the diagnostic performance of mNGS technology in the simultaneous detection of pathogenic microorganisms and CNVs in current clinical practice and discuss the advantages and limitations of mNGS-CNV dual-omics detection technology. Our review highlights the need for more large-scale prospective research data on current mNGS-CNV dual-omics detection technology to provide more evidence-based results for researchers and clinicians and to promote the greater role of this technology in future clinical practice.
