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A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories.

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  • Author(s): Kim, Yoonjung; Shin, Saeam; Lee, Kyung-A
  • Source:
    BioMed Research International (BIOMED RES INT), 5/8/2018; 2018: 1-11. (11p)
  • Publication Type:
    Article - research, tables/charts
  • Language:
    English
  • Additional Information
    • Affiliation:
      Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea
      Department of Laboratory Medicine, Hallym University College of Medicine, Kangnam Sacred Heart Hospital, Seoul, Republic of Korea
    • Subject Terms:
    • Subject Terms:
    • Abstract:
      Liquid biopsies to genotype the epidermal growth factor receptor (EGFR) for targeted therapy have been implemented in clinical decision-making in the field of lung cancer, but harmonization of detection methods is still scarce among clinical laboratories. We performed a pilot external quality assurance (EQA) scheme to harmonize circulating tumor DNA testing among laboratories. For EQA, we created materials containing different levels of spiked cell-free DNA (cfDNA) in normal plasma. The limit of detection (LOD) of the cobas® EGFR Mutation Test v2 (Roche Molecular Systems) was also evaluated. From November 2016 to June 2017, seven clinical diagnostic laboratories participated in the EQA program. The majority (98.94%) of results obtained using the cobas assay and next-generation sequencing (NGS) were acceptable. Quantitative results from the cobas assay were positively correlated with allele frequencies derived from digital droplet PCR measurements and showed good reproducibility among laboratories. The LOD of the cobas assay was 5~27 copies/mL for p.E746_A750del (exon 19 deletion), 35~70 copies/mL for p.L858R, 18~36 copies/mL for p.T790M, and 15~31 copies/mL for p.A767_V769dup (exon 20 insertion). Deep sequencing of materials (>100,000X depth of coverage) resulted in detection of low-level targets present at frequencies of 0.06~0.13%. Our results indicate that the cobas assay is a reliable and rapid method for detecting EGFR mutations in plasma cfDNA. Careful interpretation is particularly important for p.T790M detection in the setting of relapse. Individual laboratories should optimize NGS performance to maximize clinical utility.
    • Journal Subset:
      Biomedical; Peer Reviewed; USA
    • ISSN:
      2314-6133
    • MEDLINE Info:
      NLM UID: 101600173
    • Publication Date:
      20180512
    • Publication Date:
      20180512
    • DOI:
      10.1155/2018/7392419
    • Accession Number:
      129512716
  • Citations
    • ABNT:
      KIM, Y.; SHIN, S.; LEE, K.-A. A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories. BioMed Research International, [s. l.], v. 2018, p. 1–11, 2018. DOI 10.1155/2018/7392419. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=129512716. Acesso em: 30 out. 2020.
    • AMA:
      Kim Y, Shin S, Lee K-A. A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories. BioMed Research International. 2018;2018:1-11. doi:10.1155/2018/7392419
    • APA:
      Kim, Y., Shin, S., & Lee, K.-A. (2018). A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories. BioMed Research International, 2018, 1–11. https://doi.org/10.1155/2018/7392419
    • Chicago/Turabian: Author-Date:
      Kim, Yoonjung, Saeam Shin, and Kyung-A Lee. 2018. “A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories.” BioMed Research International 2018 (May): 1–11. doi:10.1155/2018/7392419.
    • Harvard:
      Kim, Y., Shin, S. and Lee, K.-A. (2018) ‘A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories’, BioMed Research International, 2018, pp. 1–11. doi: 10.1155/2018/7392419.
    • Harvard: Australian:
      Kim, Y, Shin, S & Lee, K-A 2018, ‘A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories’, BioMed Research International, vol. 2018, pp. 1–11, viewed 30 October 2020, .
    • MLA:
      Kim, Yoonjung, et al. “A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories.” BioMed Research International, vol. 2018, May 2018, pp. 1–11. EBSCOhost, doi:10.1155/2018/7392419.
    • Chicago/Turabian: Humanities:
      Kim, Yoonjung, Saeam Shin, and Kyung-A Lee. “A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories.” BioMed Research International 2018 (May 8, 2018): 1–11. doi:10.1155/2018/7392419.
    • Vancouver/ICMJE:
      Kim Y, Shin S, Lee K-A. A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories. BioMed Research International [Internet]. 2018 May 8 [cited 2020 Oct 30];2018:1–11. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=129512716