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Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy

文献类型：期刊论文

作者Zhang, Le3; Fang, Kechi1,2; Ren, Haitao3; Fan, Siyuan3; Wang, Jing1,2; Guan, Hongzhi3
刊名BMC NEUROLOGY
出版日期2024-06-28
卷号24期号:1页码:7
关键词Copy number variations mNGS Cytology Leptomeningeal malignancy diagnosis
DOI10.1186/s12883-024-03655-7
通讯作者Wang, Jing(wangjing@psych.ac.cn) ; Guan, Hongzhi(pumchghz@126.com)
英文摘要BackgroundDiagnosis and monitoring of leptomeningeal malignancy remain challenging, and are usually based on neurological, radiological, cerebrospinal fluid (CSF) and pathological findings. This study aimed to investigate the diagnostic performance of CSF metagenomic next-generation sequencing (mNGS) and chromosome copy number variations (CNVs) analysis in the detection of leptomeningeal malignancy.MethodsOf the 51 patients included in the study, 34 patients were diagnosed with leptomeningeal malignancies, and 17 patients were diagnosed with central nervous system (CNS) inflammatory diseases. The Sayk's spontaneous cell sedimentation technique was employed for CSF cytology. And a well-designed approach utilizing the CSF mNGS-CNVs technique was explored for early diagnosis of leptomeningeal malignancy.ResultsIn the tumor group, 28 patients were positive for CSF cytology, and 24 patients were positive for CSF mNGS-CNVs. Sensitivity and specificity of CSF cytology were 82.35% (95% CI: 66.83-92.61%) and 94.12% (95% CI: 69.24-99.69%). In comparison, sensitivity and specificity of CSF mNGS-CNV were 70.59% (95% CI: 52.33-84.29%) and 100% (95% CI: 77.08-100%). There was no significant difference in diagnostic consistency between CSF cytology and mNGS-CNVs (p = 0.18, kappa = 0.650).ConclusionsCSF mNGS-CNVs tend to have higher specificity compared with traditional cytology and can be used as a complementary diagnostic method for patients with leptomeningeal malignancies.
收录类别SCI
WOS关键词CENTRAL-NERVOUS-SYSTEM ; LUNG-CANCER ; INSTABILITY ; METASTASIS ; LANDSCAPE ; TUMORS ; CSF
资助项目National High Level Hospital Clinical Research Funding[2022-PUMCH-B-120]
WOS研究方向Neurosciences & Neurology
语种英语
WOS记录号WOS:001257492300001
出版者BMC
资助机构National High Level Hospital Clinical Research Funding
源URL[http://ir.psych.ac.cn/handle/311026/48368]  
专题心理研究所_中国科学院心理健康重点实验室
通讯作者Wang, Jing; Guan, Hongzhi
作者单位1.Univ Chinese Acad Sci, Dept Psychol, Beijing 100049, Peoples R China
2.Chinese Acad Sci, Inst Psychol, CAS Key Lab Mental Hlth, Beijing 100101, Peoples R China
3.Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China
推荐引用方式
GB/T 7714		 Zhang, Le,Fang, Kechi,Ren, Haitao,et al. Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy[J]. BMC NEUROLOGY,2024,24(1):7.
APA Zhang, Le,Fang, Kechi,Ren, Haitao,Fan, Siyuan,Wang, Jing,&Guan, Hongzhi.(2024).Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy.BMC NEUROLOGY,24(1),7.
MLA Zhang, Le,et al."Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy".BMC NEUROLOGY 24.1(2024):7.

入库方式： OAI收割

来源：心理研究所

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