Utility of metagenomic Next-Generation Sequencing for simultaneously detecting pathogens and neoplasms
Feng Qin,
Xuejiao Hu,
Xiaojia Wang,
Weijiang Liu,
Qianyun Deng,
Yunhu Zhao,
Caiyun Li,
Chao Liu,
Zhenchao Huang,
Bing Gu
Affiliations
Feng Qin
Department of Neurosurgery, Lingnan Hospital, Branch of the Third Affiliated Hospital of Sun Yat-sen University, 2693 Kaichuang Avenue, Guangzhou, Guangdong Province, 510530, China
Xuejiao Hu
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China
Xiaojia Wang
Medical Department, Hangzhou Matridx Biotechnology Co., Ltd., Bd 2-4, 2073 Jinchang Rd, Hangzhou, Zhejiang Province, 310030, China
Weijiang Liu
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China
Qianyun Deng
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China
Yunhu Zhao
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China
Caiyun Li
Medical Department, Hangzhou Matridx Biotechnology Co., Ltd., Bd 2-4, 2073 Jinchang Rd, Hangzhou, Zhejiang Province, 310030, China
Department of Neurosurgery, Lingnan Hospital, Branch of the Third Affiliated Hospital of Sun Yat-sen University, 2693 Kaichuang Avenue, Guangzhou, Guangdong Province, 510530, China; Corresponding author.
Bing Gu
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China; Corresponding author. Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 106 Zhongshan 2nd Rd, Guangzhou, Guangdong Province, 510000, China.
Objectives: Clinicians often face the challenge of differentially diagnosing febrile patients who are suspected of infectious diseases, since the clinical manifestations of infection and cancer may overlap. A single test that can detect both pathogens and tumor could provide timely and accurate diagnostic clues to aid the treatment and management of these patients. Methods: We enrolled eight patients to evaluate the utility of metagenomic Next-Generation Sequencing for simultaneously detecting pathogens and neoplasms using body fluids and tissue samples. Patients were selected by the following criteria: 1) Tumor was not considered upon hospitalization, but mNGS testing indicated neoplasm; 2) Tumor was not excluded, but microbial infection was primarily suspected according to initial clinical assessment. Results: We detected potential pathogens in five patients, three of whom had progressed into critical infections. Moreover, abnormal chromosomal copy numbers were identified in all patients that indicated presence of neoplasms, which were pathologically confirmed. Conclusions: Although copy number variations do not render a definitive cancer diagnosis, it can prompt clinicians to conduct more focused diagnostic testing for cancer, potentially saving time and cost. As a result, integrating copy number analysis with pathogen detection in mNGS may help establish rapid and accurate diagnosis for febrile patients.
