Analysis of clinical cases of lung cancer diagnosis assisted by metagenomic next-generation sequencing technology_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

ZHOU Jiejun ¹ , LI Dong ^1,2 , LI Duo ¹ , REN Ruotong ³ , SUN Hongyun ³ ,  CHEN Mingwei ¹ ,  YANG Tian ¹

1. Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P. R. China;
2. Department of Respiratory and Critical Care Medicine, Guyuan People's Hospital, Guyuan, Ningxia 756000, P. R. China;
3. Hangzhou Matridx Biotechnology Co. Ltd., Hangzhou, Zhejiang 311100, P. R. China;

Corresponding author：

CHEN Mingwei, Email: chenmw36@163.com; YANG Tian, Email: xiaojunjun0829@126.com

Keywords：

Metagenomic next-generation sequencing; lung infection; lung neoplasm; tumor early warning

DOI：

10.7507/1671-6205.202204021

Video：

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Objective To explore the application value of metagenomic next-generation sequencing (mNGS) based on human sequencing in the clinical early diagnosis of lung cancer. Methods Four patients hospitalized with suspected lung infection were retrospectively analyzed, and the test results of bronchoalveolar lavage fluid (BALF) on mNGS of tumor metagenome, the routine clinical test results, and their clinical diagnosis and treatment information in between August 26, 2021, and December 18, 2021. Results Patient 1 was preliminarily diagnosed with lung cancer by referring to chest computed tomography (CT) imaging. Chest radiograph or CT in the other three patients showed bilateral lung CT and lamellar hyperintensities (patient 2), bilateral lung mass-like and lamellar hyperintensities (patient 3), and lung masses (patient 4), respectively. BALF samples from all 4 patients were detected with mNGS based on human tumor sequences, indicating tumor. In addition, the result in patient 3 also indicated white pseudofilamentous yeast infection consistent with clinical culture, and the result in patient 4 also showed infection of rhinovirus type A. Conclusion The second generation genome sequencing technology based on human sequence can not only assist clinical diagnosis of infection, but also provide detection datUM support for tumor early warning.

Citation： ZHOU Jiejun, LI Dong, LI Duo, REN Ruotong, SUN Hongyun, CHEN Mingwei, YANG Tian. Analysis of clinical cases of lung cancer diagnosis assisted by metagenomic next-generation sequencing technology. Chinese Journal of Respiratory and Critical Care Medicine, 2022, 21(12): 855-860. doi: 10.7507/1671-6205.202204021 Copy

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13.	Nabavi S, Zare F. Identification of copy number alterations from next-generation sequencing data. Adv Exp Med Biol, 2022, 1361: 55-74.
14.	Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet, 2010, 11(10): 685-696.
15.	Gu W, Talevich E, Hsu E, et al. Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluids. Genome Med, 2021, 13(1): 98.
16.	Liang DS, Peng Y, Lv WG, et al. Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn, 2014, 16(5): 519-526.
17.	Liu KL, Gao Y, Han JW, et al. Diffuse large B-cell lymphoma of the mandible diagnosed by metagenomic sequencing: a case report. Front Med (Lausanne), 2021, 8: 752523.
18.	Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell, 2011, 144(5): 646-674.
19.	Rao CV, Asch AS, Yamada HY. Emerging links among Chromosome Instability (CIN), cancer, and aging. Mol Carcinog, 2017, 56(3): 791-803.
20.	Li XL, Chen XF, Hu GH, et al. Combined analysis with copy number variation identifies risk loci in lung cancer. Biomed Res Int, 2014, 2014: 469103.
21.	Li TY, Zhang F. Screening of lung cancer related SNPs and CNVs with SNP microarrays. Eur Rev Med Pharmacol Sci, 2015, 19(2): 225-234.
22.	王艳泓, 邱玉英, 唐健, 等. 结合宏基因组二代测序诊断的八例鹦鹉热患者临床分析. 中国呼吸与危重监护杂志, 2021, 20(7): 472-478.
23.	Guo YF, Li HN, Chen HB, et al. Metagenomic next-generation sequencing to identify pathogens and cancer in lung biopsy tissue. EBioMedicine, 2021, 73: 103639.

1. Sung S, Shirazi M, Shu CA, et al. Pulmonary small cell carcinoma: Review, common and uncommon differentials, genomics and management. Diagn Cytopathol, 2020, 48(8): 790-803.
2. Shin N, Choi JA, Choi JM, et al. Sclerotic changes of cavernous hemangioma in the cirrhotic liver: long-term follow-up using dynamic contrast-enhanced computed tomography. Radiol Med, 2020, 125(12): 1225-1232.
3. Gentili F, Bronico I, Maestroni U, et al. Small renal masses (≤ 4 cm): differentiation of oncocytoma from renal clear cell carcinoma using ratio of lesion to cortex attenuation and aorta-lesion attenuation difference (ALAD) on contrast-enhanced CT. Radiol Med, 2020, 125(12): 1280-1287.
4. Mayer P, Giannakis A, Klauß M, et al. Radiological evaluation of pancreatic cancer: What is the significance of arterial encasement >180° after neoadjuvant treatment?. Eur J Radiol, 2021, 137: 109603.
5. Granata V, Grassi R, Fusco R, et al. Pancreatic cancer detection and characterization: state of the art and radiomics. Eur Rev Med Pharmacol Sci, 2021, 25(10): 3684-3699.
6. Granata V, Fusco R, Bicchierai G, et al. Diagnostic protocols in oncology: workup and treatment planning. Part 1: the optimitation of CT protocol. Eur Rev Med Pharmacol Sci, 2021, 25(22): 6972-6994.
7. Garcia-Velloso MJ, Bastarrika G, de-Torres JP, et al. Assessment of indeterminate pulmonary nodules detected in lung cancer screening: diagnostic accuracy of FDG PET/CT. Lung Cancer, 2016, 97: 81-86.
8. Beroukhim R, Mermel CH, Porter D, et al. The landscape of somatic copy-number alteration across human cancers. Nature, 2010, 463(7283): 899-905.
9. Albertson DG, Collins C, McCormick F, et al. Chromosome aberrations in solid tumors. Nat Genet, 2003, 34(4): 369-376.
10. Li YL, Roberts ND, Wala JA, et al. Patterns of somatic structural variation in human cancer genomes. Nature, 2020, 578(7793): 112-121.
11. Graf RP, Eskander R, Brueggeman L, et al. Association of copy number variation signature and survival in patients with serous ovarian cancer. JAMA Netw Open, 2021, 4(6): e2114162.
12. Jamal-Hanjani M, Wilson GA, McGranahan N, et al. Tracking the evolution of non-small-cell lung cancer. N Engl J Med, 2017, 376(22): 2109-2121.
13. Nabavi S, Zare F. Identification of copy number alterations from next-generation sequencing data. Adv Exp Med Biol, 2022, 1361: 55-74.
14. Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet, 2010, 11(10): 685-696.
15. Gu W, Talevich E, Hsu E, et al. Detection of cryptogenic malignancies from metagenomic whole genome sequencing of body fluids. Genome Med, 2021, 13(1): 98.
16. Liang DS, Peng Y, Lv WG, et al. Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn, 2014, 16(5): 519-526.
17. Liu KL, Gao Y, Han JW, et al. Diffuse large B-cell lymphoma of the mandible diagnosed by metagenomic sequencing: a case report. Front Med (Lausanne), 2021, 8: 752523.
18. Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell, 2011, 144(5): 646-674.
19. Rao CV, Asch AS, Yamada HY. Emerging links among Chromosome Instability (CIN), cancer, and aging. Mol Carcinog, 2017, 56(3): 791-803.
20. Li XL, Chen XF, Hu GH, et al. Combined analysis with copy number variation identifies risk loci in lung cancer. Biomed Res Int, 2014, 2014: 469103.
21. Li TY, Zhang F. Screening of lung cancer related SNPs and CNVs with SNP microarrays. Eur Rev Med Pharmacol Sci, 2015, 19(2): 225-234.
22. 王艳泓, 邱玉英, 唐健, 等. 结合宏基因组二代测序诊断的八例鹦鹉热患者临床分析. 中国呼吸与危重监护杂志, 2021, 20(7): 472-478.
23. Guo YF, Li HN, Chen HB, et al. Metagenomic next-generation sequencing to identify pathogens and cancer in lung biopsy tissue. EBioMedicine, 2021, 73: 103639.

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