Table 2.
Summary of research articles employing mNGS for CNV detection.
| Research type | Sample type | Cancer type | Number of participants for CNV analysis | Gold standard | mNGS-CNV Sensitivity | mNGS-CNV Specificity | Published data & Ref. |
|---|---|---|---|---|---|---|---|
| Retrospective | BALF, sputum, tissue, blood | Lung cancer | 23 | Clinical diagnosis/pathology | BALF 38.5 % Tissue 100 % Blood 100 % |
– | 2023 [77] |
| Retrospective | Pleural effusion | Malignant pleural effusion | 113 | Clinical diagnosis | 54.1 % | 80.8 % | 2023 [7] |
| Retrospective | Blood | Malignant diseases with EBV-positivity (lymphoma/nasopharyngeal carcinoma) | 29 | Clinical diagnosis | 90 % | 89.5 % | 2023 [78] |
| Retrospective (case-control study) | Pleural fluid/Peritoneal fluid/BALF/other body fluids | Clinical diagnosis of either malignancy | 124 | Cytology and/or flow cytometry testing | 87 % for cytology/cytometry-positive case 68% for cytology/cytometry-negative cases |
100 % for negative controls | 2021 [75] |
| Prospective (verification cohort) | Pleural/Peritoneal/BALF/Pericardial/fine needle aspirate | / | 81 | Cytology and/or flow cytometry testing | |||
| Prospective | Peripheral blood/BALF/CSF/others (e.g., sputum, pleural fluid, ascites, and pericardial effusion | Lung adenocarcinomas/hematological tumor/ | 140 | clinical diagnosis | 66.7 | 98.3 % | 2022 [76] |
| Retrospective (Test performance case-control study) | CSF | CNS malignant neoplasm | / | Clinical criterion standard (flow cytometry and/or cytologic testing) | 64 % | 100 % | 2021 [81] |
| Prospective (Neuroinflammatorydisease case-control study) | CSF | CNS malignant neoplasm | 29 | Clinical criterion standard (flow cytometry and/or cytologic testing) | 55 % | 100 % | |
| Retrospective | BALF | Lung cancer | 61.22 %(30/49) | 99.65 % | 2023 [80] | ||
| Descriptive study | CSF | Meningeal carcinomatosis | 10 | Cytology | 80 %(8/10) | / | 2023 [83] |
| Case report | Blood/CSF/biopsy/BLAF | Various cancers | 2024 [79] | ||||
| Case report | BALF | Lung squamous cell carcinoma | / | H&E staining and immunohistochemistry of lung biopsy | / | / | 2022 [84] |
| Case report | pericardial drainage fluid & pleural drainage fluid | T-lymphoblastic lymphoma | / | Bone marrow biopsy, immunohistochemistry, flow cytometry, PCR testing, and FISH | / | / | 2023 [85] |
| Case report | BALF | Pneumonic-type lung cancer | / | CT scans and pathology examinations | / | / | 2022 [86] |
| Case report | Plasma | Diffuse large B-cell lymphoma | / | Mandibular biopsy | / | / | 2021 [87] |
| Case report | Blood | Liver disease | / | Imaging and biochemical examination | / | / | 2023 [88] |
Abbreviations: mNGS, metagenomic next-generation sequencing; CNV, copy number variants; BALF, bronchoalveolar lavage fluid; CSF, cerebrospinal fluid; EBV, Epstein-Barr virus; H&E staining, hematoxylin-eosin staining; PCR, polymerase chain reaction; FISH, Fluorescence in situ hybridization; CT, Computed Tomography.