Liquid biopsy in lung cancer

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Mona Mlika
Paul Hofman
Chadli Dziri
Faouzi Mezni

Abstract

In the era of the personalized medicine, we need not only to an accurate diagnosis of lung cancer but also to assess the molecular pathways involved in order to target them. The most relevant targets in lung cancer are the genes EGFR, ALK-EML4, ROS1, Her2Neu, BRAF. Mutations or translocations of these genes are performed on biopsies in 80% of the cases and 30% of the patients cannot have their molecular tests done. This may be due to the lack of tumor samples secondary to the morphologic and immunohistochemical techniques, contraindication to biopsy or difficulties to biopsy. Besides, tumor cells tend to activate other pathways that weren’t activated at the onset in order to escape to therapeutic drugs. This phenomenon of resistance is observed 3 to 6 months after the onset of the treatment. In order to escape all these limitations, liquid biopsy was developed. It consists in a simple blood sample of 5 to 10 ml in which circulating tumor cells, circulating tumor DNA, tumor RNA, exosomes and secretomes are explored. In this paper, we tried to define liquid biopsy, to highlight the means of diagnosis, its limits, its advantages and its perspectives in Tunisia.

Keywords:

liquid biopsy, circulating tumoral DNA, exosomes.

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References

  1. Mlika M, Ayadi-kaddour A, Boudaya S, Laabidi S, Boussen H, Mezni F El. Formation médical continue La nouvelle classification des adénocarcinomes pulmonaires proposée par la société Thoracique américaine et la société respiratoire Européenne : De nouvelles recommandations pour une meilleure prise en charge.
  2. Mlika M, Ayadi-kaddour A, Laabidi S, Boudaya S, Boussen H, Mezni F El. Revue de la littéRatuRe Carcinogénèse des carcinomes bronchiques non a petites cellules et implications thérapeutiques. 2014;368-72.
  3. Mlika M, Laabidi S, Afrit M, Boussen H, El Mezni F. Genomic classification of lung cancer: toward a personalized treatment. La Tunisie meÌdicale [Internet]. 2015;93(6):339-44. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26644092
  4. Ilié M, Hofman P. Pros: Can tissue biopsy be replaced by liquid biopsy? Transl Lung Cancer Res [Internet]. 2016;5(4):420-3. Available from: http://tlcr.amegroups.com/article/view/8950/8064
  5. Bernabé R, Hickson N, Wallace A, Blackhall FH. What do we need to make circulating tumour DNA (ctDNA) a routine diagnostic test in lung cancer? Eur J Cancer. 2017;81:66-73.
  6. Kim ES, Hirsh V, Mok T, Socinski MA, Gervais R, Wu YL, et al. Gefitinib versus docetaxel in previously treated non-small-cell lung cancer (INTEREST): a randomised phase III trial. Lancet [Internet]. Elsevier Ltd; 2008;372(9652):1809-18. Available from: http://dx.doi.org/10.1016/S0140-6736(08)61758-4
  7. Dash PK, Gorantla S, Gendelman HE, Knibbe J, George P, Makarov E, et al. NIH Public Access. Quest. 2011;31(9):3148-57.
  8. company-bets-catching-cancer-liquid-biopsy-n493711 @ www.nbcnews.com [Internet]. Available from: http://www.nbcnews.com/health/cancer/company-bets-catching-cancer-liquid-biopsy-n493711?cid=eml_onsite
  9. Malapelle U, Pisapia P, Rocco D, Smeraglio R, di Spirito M, Bellevicine C, et al. Next generation sequencing techniques in liquid biopsy: focus on non-small cell lung cancer patients. Transl lung cancer Res [Internet]. 2016;5(5):505-10. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=5099511&tool=pmcentrez&rendertype=abstract
  10. Chudasama D, Barr J, Beeson J, Beddow E, McGonigle N, Rice A, et al. Detection of Circulating Tumour Cells and Survival of Patients with Non-small Cell Lung Cancer. Anticancer Res [Internet]. 2017;37(1):169-73. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28011487
  11. Brown P. The Cobas® EGFR Mutation Test v2 assay. Future Oncol [Internet]. 2016;12(4):451-2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26838018
  12. Rolfo C, Castiglia M, Hong D, Alessandro R, Mertens I, Baggerman G, et al. Liquid biopsies in lung cancer: The new ambrosia of researchers. Biochim Biophys Acta - Rev Cancer. Elsevier B.V.; 2014;1846(2):539-46.
  13. Nurwidya F, Zaini J, Putra AC, Andarini S, Hudoyo A, Syahruddin E, et al. Circulating Tumor Cell and Cell-free Circulating Tumor DNA in Lung Cancer. â’¸ Chonnam Med J Chonnam Med J [Internet]. 2016;52:151-8. Available from: http://dx.doi.org/10.4068/cmj.2016.52.3.151
  14. Ilie M, Hofman V, Long E, Bordone O, Selva E, Washetine K, et al. Current challenges for detection of circulating tumor cells and cell-free circulating nucleic acids, and their characterization in non-small cell lung carcinoma patients. What is the best blood substrate for personalized medicine? Ann Transl Med [Internet]. 2014;2(11):107. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=4245510&tool=pmcentrez&rendertype=abstract
  15. Sholl LM, Aisner DL, Allen TC, Beasley MB, Cagle PT, Capelozzi VL, et al. Liquid biopsy in lung cancer: A perspective from members of the pulmonary pathology society. Arch Pathol Lab Med. 2016;140(8):825-9.
  16. Reclusa P, Sirera R, Araujo A, Giallombardo M, Valentino A, Sorber L, et al. Exosomes genetic cargo in lung cancer: a truly Pandora's box. Transl lung cancer Res [Internet]. 2016;5(5):483-91. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27826529%5Cnhttp://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC5099517
  17. Chen H, Cao B, Sun B, Cao Y, Yang K, Lin Y-S, et al. Highly-sensitive capture of circulating tumor cells using micro- ellipse filters. Sci Rep [Internet]. Springer US; 2017;(February):1-10. Available from: http://dx.doi.org/10.1038/s41598-017-00232-6
  18. Hosokawa M, Kenmotsu H, Koh Y, Yoshino T, Yoshikawa T, Naito T, et al. Size-Based Isolation of Circulating Tumor Cells in Lung Cancer Patients Using a Microcavity Array System. PLoS One. 2013;8(6).
  19. Freidin MB, Tay A, Freydina D V., Chudasama D, Nicholson AG, Rice A, et al. An assessment of diagnostic performance of a filter-based antibody-independent peripheral blood circulating tumour cell capture paired with cytomorphologic criteria for the diagnosis of cancer. Lung Cancer [Internet]. Elsevier Ireland Ltd; 2014;85(2):182-5. Available from: http://dx.doi.org/10.1016/j.lungcan.2014.05.017
  20. Gorges TM, Penkalla N, Schalk T, Joosse SA, Riethdorf S, Tucholski J, et al. Enumeration and Molecular Characterization of Tumor Cells in Lung Cancer Patients Using a Novel In Vivo Device for Capturing Circulating Tumor Cells. Clin Cancer Res. 2016;22(9):2197-206.
  21. Zhang H, Liu D, Li S, Zheng Y, Yang X, Li X, et al. Comparison of EGFR signaling pathway somatic DNA mutations derived from peripheral blood and corresponding tumor tissue of patients with advanced non-small-cell lung cancer using liquidchip technology. J Mol Diagn [Internet]. 2013;15(6):819-26. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23988622
  22. Lin CC, Huang WL, Wei F, Su WC, Wong DT. Emerging platforms using liquid biopsy to detect EGFR mutations in lung cancer. Expert Rev Mol Diagn [Internet]. 2015;15(11):1427-40. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889428/pdf/nihms787733.pdf
  23. Ansari J, Yun JW, Kompelli AR, Moufarrej YE, Alexander JS, Herrera GA, et al. The liquid biopsy in lung cancer. Genes Cancer [Internet]. 2016;7(11-12):355-67. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28191282%5Cnhttp://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC5302037
  24. Liu X, Lu Y, Zhu G, Lei Y, Zheng L, Qin H, et al. The diagnostic accuracy of pleural effusion and plasma samples versus tumour tissue for detection of EGFR mutation in patients with advanced non-small cell lung cancer: comparison of methodologies. J Clin Pathol [Internet]. 2013;66(12):1065-9.
  25. Marchetti A, Del Grammastro M, Felicioni L, Malatesta S, Filice G, Centi I, et al. Assessment of EGFR mutations in circulating tumor cell preparations from NSCLC patients by next generation sequencing: Toward a real-time liquid biopsy for treatment. PLoS One. 2014;9(8).
  26. Que D, Xiao H, Zhao B, Zhang X, Wang Q, Xiao H, et al. EGFR mutation status in plasma and tumor tissues in non-small cell lung cancer serves as a predictor of response to EGFR-TKI treatment. Cancer Biol Ther. Taylor & Francis; 2016;17(3):320-7.
  27. Bai H, Mao L, Wang HS, Zhao J, Yang L, An TT, et al. Epidermal growth factor receptor mutations in plasma DNA samples predict tumor response in Chinese patients with stages IIIB to IV non-small-cell lung cancer. J Clin Oncol [Internet]. 2009;27(16):2653-9.
  28. Yin C, Luo C, Hu W, Ding X, Yuan C, Wang F. Quantitative and Qualitative Analysis of Circulating Cell-Free DNA Can Be Used as an Adjuvant Tool for Prostate Cancer Screening: A Meta-Analysis. Dis Markers. 2016;2016.
  29. Douillard J-Y, Ostoros G, Cobo M, Ciuleanu T, Cole R, McWalter G, et al. Gefitinib Treatment in EGFR Mutated Caucasian NSCLC. J Thorac Oncol [Internet]. 2014;9(9):1345-53.
  30. He C, Liu M, Zhou C, Zhang J, Ouyang M, Zhong N, et al. Detection of epidermal growth factor receptor mutations in plasma by mutant-enriched PCR assay for prediction of the response to gefitinib in patients with non-small-cell lung cancer. Int J Cancer. 2009;125(10):2393-9.
  31. He J, Tan W, Ma J. Circulating tumor cells and DNA for real-time EGFR detection and monitoring of non-small-cell lung cancer. 2017;
  32. Jiang B, Liu F, Yang L, Zhang W, Yuan H, Wang J, et al. Serum detection of epidermal growth factor receptor gene mutations using mutant-enriched sequencing in Chinese patients with advanced non-small cell lung cancer. J Int Med Res [Internet]. 2011;39(4):1392-401.
  33. Kim H-R, Lee SY, Hyun D-S, Lee MK, Lee H-K, Choi C-M, et al. Detection of EGFR mutations in circulating free DNA by PNA-mediated PCR clamping. J Exp Clin Cancer Res [Internet]. Journal of Experimental & Clinical Cancer Research; 2013;32(1):50.
  34. Kuang Y, Rogers A, Yeap BY, Wang L, Makrigiorgos M, Vetrand K, et al. Noninvasive detection of EGFR T790M in gefitinib or erlotinib resistant non-small cell lung cancer. Clin Cancer Res. 2009;15(8):2630-6.
  35. ang Y, Shen X, Li R, Shen J, Zhang H, Yu L, et al. The detection and significance of EGFR and BRAF in cell-free DNA of peripheral blood in NSCLC. Oncotarget [Internet]. 2017; Available from: http://www.ncbi.nlm.nih.gov/pubmed/28572536%5Cnhttp://www.oncotarget.com/fulltext/17937
  36. Zhao X, Han RB, Zhao J, Wang J, Yang F, Zhong W, et al. Comparison of epidermal growth factor receptor mutation statuses in tissue and plasma in stage I-IV non-small cell lung cancer patients. Respiration. 2013;85(2):119-25.
  37. Zhu G, Ye X, Dong Z, Lu YC, Sun Y, Liu Y, et al. Highly sensitive droplet digital PCR method for detection of EGFR-activating mutations in plasma cell-free DNA from patients with advanced non-small cell lung cancer. J Mol Diagnostics. 2015;17(3):265-72.
  38. Kwapisz D. The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer? Ann Transl Med. 2017;5(3):1-7.
  39. Chabon JJ, Simmons AD, Lovejoy AF, Esfahani MS, Newman AM, Haringsma HJ, et al. Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients. Nat Commun [Internet]. Nature Publishing Group; 2016;7(May):11815.
  40. Schumacher TN, Scheper W. A liquid biopsy for cancer immunotherapy. Nat Med [Internet]. Nature Publishing Group; 2016;22(4):340-1.
  41. Alix-Panabieres C, Bartkowiak K, Pantel K. Functional studies on circulating and disseminated tumor cells in carcinoma patients. Mol Oncol. 2016;10(3):443-9.
  42. Han Y, Li J. Sample types applied for molecular diagnosis of therapeutic management of advanced non-small cell lung cancer in the precision medicine. Clin Chem Lab Med [Internet]. 2017;0(0). Available from: http://www.degruyter.com/view/j/cclm.ahead-of-print/cclm-2017-0112/cclm-2017-0112.xml
  43. Douillard J-Y, Ostoros G, Cobo M, Ciuleanu T, McCormack R, Webster A, et al. First-line gefitinib in Caucasian EGFR mutation-positive NSCLC patients: a phase-IV, open-label, single-arm study. Br J Cancer [Internet]. Nature Publishing Group; 2014;110(1):55-62.
  44. Kim ST, Sung JS, Jo UH, Park KH, Shin SW, Kim YH. Can mutations of EGFR and KRAS in serum be predictive and prognostic markers in patients with advanced non-small cell lung cancer (NSCLC)? Med Oncol [Internet]. 2013;30(1):328.