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Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing

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Standardization of cell-free DNA (cfDNA) testing processes is necessary to obtain clinically reliable results. The pre-analytical phase of cfDNA testing greatly influences the results because of the low proportion and stability of circulating tumor DNA (ctDNA). In this review, we provide evidence-based clinical practice guidelines for pre-analytical phase procedures of plasma epidermal growth factor receptor gene (EGFR) variant testing. Specific recommendations for pre-analytical procedures were proposed based on evidence from the literature and our experimental data. Standardization of pre-analytical procedures can improve the analytical performance of cfDNA testing.

Abstract

Standardization of cell-free DNA (cfDNA) testing processes is necessary to obtain clinically reliable results. The pre-analytical phase of cfDNA testing greatly influences the results because of the low proportion and stability of circulating tumor DNA (ctDNA). In this review, we provide evidence-based clinical practice guidelines for pre-analytical phase procedures of plasma epidermal growth factor receptor gene (EGFR) variant testing. Specific recommendations for pre-analytical procedures were proposed based on evidence from the literature and our experimental data. Standardization of pre-analytical procedures can improve the analytical performance of cfDNA testing.

참고문헌 (41)

  1. Langer CJ, "Epidermal growth factor receptor inhibition in mutation-positive non-small-cell lung cancer : is afatinib better or simply newer?", J Clin Oncol, 31, pp.3303~3306 (2013)
  2. Chae Hyojin, "Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma", Annals of Laboratory Medicine, 41(2), pp.198~206 (2021), 대한진단검사의학회[DOI]
  3. "Notice of safety and efficacy of new medical device" (2017)[URL]
  4. Li X, "Comparison of cross-platform technologies for EGFR T790M testing in patients with non-small cell lung cancer", Oncotarget, 8, pp.100801~100818 (2017)
  5. Passiglia F, "The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC : a systematic review and meta-analysis", Sci Rep, 8, pp.13379~ (2018)
  6. Meddeb R, "Guidelines for the preanalytical conditions for analyzing circulating cell-free DNA", Clin Chem, 65, pp.623~633 (2019)
  7. Underhill HR, "Fragment length of circulating tumor DNA", PLoS Genet, 12, pp.e1006162~ (2016)
  8. Jung M, "Changes in concentration of DNA in serum and plasma during storage of blood samples", Clin Chem, 49, pp.1028~1029 (2003)
  9. El Messaoudi S, "Circulating cell free DNA : Preanalytical considerations", Clin Chim Acta, 424, pp.222~230 (2013)
  10. Normanno N, "Guide to detecting epidermal growth factor receptor(EGFR)mutations in ctDNA of patients with advanced non-small-cell lung cancer", Oncotarget, 8, pp.12501~12516 (2017)
  11. Lam NY, "EDTA is a better anticoagulant than heparin or citrate for delayed blood processing for plasma DNA analysis", Clin Chem, 50, pp.256~257 (2004)
  12. van Dessel LF, "Application of circulating tumor DNA in prospective clinical oncology trials-standardization of preanalytical conditions", Mol Oncol, 11, pp.295~304 (2017)
  13. Medina Diaz I, "Performance of Streck cfDNA blood collection tubes for liquid biopsy testing", PLoS One, 11, pp.e0166354~ (2016)
  14. Sherwood JL, "Optimised pre-analytical methods improve KRAS mutation detection in circulating tumour DNA(ctDNA)from patients with non-small cell lung cancer(NSCLC)", PLoS One, 11, pp.e0150197~ (2016)
  15. van Ginkel JH, "Preanalytical blood sample workup for cell-free DNA analysis using Droplet Digital PCR for future molecular cancer diagnostics", Cancer Med, 6, pp.2297~2307 (2017)
  16. Deans ZC, "Review of the implementation of plasma ctDNA testing on behalf of IQN Path ASBL : a perspective from an EQA providers’ survey", Virchows Arch, 471, pp.809~813 (2017)
  17. Xue X, "Optimizing the yield and utility of circulating cell-free DNA from plasma and serum", Clin Chim Acta, 404, pp.100~104 (2009)
  18. Angert RM, "Fetal cell-free plasma DNA concentrations in maternal blood are stable 24 hours after collection : analysis of first-and third-trimester samples", Clin Chem, 49, pp.195~198 (2003)
  19. Lui YY, "Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation", Clin Chem, 48, pp.421~427 (2002)
  20. Chan KC, "Effects of preanalytical factors on the molecular size of cell-free DNA in blood", Clin Chem, 51, pp.781~784 (2005)
  21. 정태동, "Effects of Pre-analytical Variables on Cell-free DNA Extraction for Liquid Biopsy", Laboratory Medicine Online, 9(2), pp.45~56 (2019), 대한진단검사의학회[DOI]
  22. Risberg B, "Effects of collection and processing procedures on plasma circulating cell-free DNA from cancer patients", J Mol Diagn, 20, pp.883~892 (2018)
  23. Alidousty C, "Comparison of blood collection tubes from three different manufacturers for the collection of cell-free DNA for liquid biopsy mutation testing", J Mol Diagn, 19, pp.801~804 (2017)
  24. Warton K, "Evaluation of Streck BCT and PAXgene stabilised blood collection tubes for cell-free circulating DNA studies in plasma", Mol Diagn Ther, 21, pp.563~570 (2017)
  25. Lee J-H, "Algorithm for differential diagnosis of in vitro and in vivo hemolysis in anticoagulated blood specimens", J Lab Med Qual Assur, 39, pp.132~140 (2017)
  26. Chiu RW, "Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma", Clin Chem, 47, pp.1607~1613 (2001)
  27. Swinkels DW, "Effects of blood-processing protocols on cell-free DNA quantification in plasma", Clin Chem, 49, pp.525~526 (2003)
  28. Sanchez C, "New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis", NPJ Genom Med, 3, pp.31~ (2018)
  29. Heitzer E, "Circulating tumor DNA as a liquid biopsy for cancer", Clin Chem, 61, pp.112~123 (2015)
  30. Kim Y, "Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients", Cancer Cell Int, 19, pp.251~ (2019)
  31. Pérez-Barrios C, "Comparison of methods for circulating cell-free DNA isolation using blood from cancer patients : impact on biomarker testing", Transl Lung Cancer Res, 5, pp.665~672 (2016)
  32. Sorber L, "A comparison of cell-free DNA isolation kits", J Mol Diagn, 19, pp.162~168 (2017)
  33. Markus H, "Evaluation of pre-analytical factors affecting plasma DNA analysis", Sci Rep, 8, pp.7375~ (2018)
  34. Trigg RM, "Factors that influence quality and yield of circulating-free DNA : A systematic review of the methodology literature", Heliyon, 4, pp.e00699~ (2018)
  35. Ponti G, "The value of fluorimetry(Qubit)and spectrophotometry(NanoDrop)in the quantification of cell-free DNA(cfDNA)in malignant melanoma and prostate cancer patients", Clin Chim Acta, 479, pp.14~19 (2018)
  36. Zheng D, "Plasma EGFR T790M ctDNA status is associated with clinical outcome in advanced NSCLC patients with acquired EGFR-TKI resistance", Sci Rep, 6, pp.20913~ (2016)
  37. Wei B, "Combined plasma and tissue genotyping of EGFR T790M benefits NSCLC patients : a real-world clinical example", Mol Oncol, 13, pp.1226~1234 (2019)
  38. Chen YL, "Five technologies for detecting the EGFR T790M mutation in the circulating cell-free DNA of patients with non-small cell lung cancer : a comparison", Front Oncol, 9, pp.631~ (2019)
  39. Keedy VL, "American Society of Clinical Oncology provisional clinical opinion : epidermal growth factor receptor(EGFR)mutation testing for patients with advanced non-small-cell lung cancer considering first-line EGFR tyrosine kinase inhibitor therapy", J Clin Oncol, 29, pp.2121~2127 (2011)
  40. Hummelink K, "Cell-free DNA in the supernatant of pleural effusion can be used to detect driver and resistance mutations, and can guide tyrosine kinase inhibitor treatment decisions", ERJ Open Res, 5, pp.00016~2019 (2019)
  41. Li YS, "Unique genetic profiles from cerebrospinal fluid cell-free DNA in leptomeningeal metastases of EGFR-mutant non-small-cell lung cancer : a new medium of liquid biopsy", Ann Oncol, 29, pp.945~952 (2018)

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