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External Quality Assessment Schemes for Biomarker Testing in Oncology: Comparison of Performance between Formalin-Fixed, Paraffin-Embedded-Tissue and Cell-Free Tumor DNA in Plasma

International Quality Network for Pathology ctDNA Working Group and the European Society of Pathology Foundation Assessors, Van Casteren, K., Keppens, C., Schuuring, E., Deans, Z. C., Normanno, N., Patton, S. J. & Dequeker, E. M. C., Jun-2020, In : Journal of molecular diagnostics. 22, 6, p. 736-747 12 p.

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  • External Quality Assessment Schemes for Biomarker Testing in Oncology

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DOI

  • International Quality Network for Pathology ctDNA Working Group and the European Society of Pathology Foundation Assessors
  • Kaat Van Casteren
  • Cleo Keppens
  • Ed Schuuring
  • Zandra C Deans
  • Nicola Normanno
  • Simon J Patton
  • Elisabeth M C Dequeker

Liquid biopsies have emerged as a useful addition to tissue biopsies in molecular pathology. Literature has shown lower laboratory performances when a new method of variant analysis is introduced. This study evaluated the differences in variant analysis between tissue and plasma samples after the introduction of liquid biopsy in molecular analysis. Data from a pilot external quality assessment scheme for the detection of molecular variants in plasma samples and from external quality assessment schemes for the detection of molecular variants in tissue samples were collected. Laboratory performance and error rates by sample were compared between matrices for variants present in both scheme types. Results showed lower overall performance [65.6% (n = 276) versus 89.2% (n = 1607)] and higher error rates [21.0% to 43.5% (n = 138) versus 8.7% to 16.7% (n = 234 to 689)] for the detection of variants in plasma compared to tissue, respectively. In the plasma samples, performance was decreased for variants with an allele frequency of 1% compared to 5% [56.5% (n = 138) versus 74.6% (n = 138)]. The implementation of liquid biopsy in the detection of circulating tumor DNA in plasma was associated with poor laboratory performance. It is important both to apply optimal detection methods and to extensively validate new methods for testing circulating tumor DNA before treatment decisions are made.

Original languageEnglish
Pages (from-to)736-747
Number of pages12
JournalJournal of molecular diagnostics
Volume22
Issue number6
Publication statusPublished - Jun-2020

    Keywords

  • GROWTH-FACTOR RECEPTOR, EGFR T790M MUTATION, IQN PATH ASBL, LUNG-CANCER, AMERICAN SOCIETY, MOLECULAR PATHOLOGY, CLINICAL ONCOLOGY, LIQUID BIOPSIES, GUIDELINE, COLLEGE

ID: 128409841