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Related Experiment Video

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Reduced sensitivity for EGFR T790M mutations using the Idylla EGFR Mutation Test.

Eric Lee1, Victoria Jones2, Eleni Topkas2

  • 1Molecular Pathology, Sullivan Nicolaides Pathology, Brisbane, QLD, Australia eric_lee@snp.com.au.

Journal of Clinical Pathology
|May 30, 2020
PubMed
Summary

The Idylla EGFR Mutation Test shows lower sensitivity for detecting the T790M mutation in non-small cell lung cancer compared to NGS and ddPCR. False negatives may occur, necessitating orthogonal testing.

Keywords:
EGFRlung cancermolecular pathology

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Osimertinib targets EGFR T790M mutations in non-small cell lung cancer (NSCLC).
  • The Idylla EGFR Mutation Test offers rapid detection of EGFR mutations, including T790M.
  • Uncertainty exists regarding the sensitivity of the Idylla assay for T790M detection, with reported false negatives.

Purpose of the Study:

  • To evaluate the sensitivity of the Idylla EGFR Mutation Test for detecting the T790M mutation in NSCLC.
  • To compare the performance of the Idylla assay against next-generation sequencing (NGS) and droplet digital PCR (ddPCR).
  • To identify factors associated with false-negative T790M results from the Idylla assay.

Main Methods:

  • Eighty NSCLC samples were analyzed using both the Idylla EGFR Mutation Test and an NGS assay.
  • Samples with T790M mutations confirmed by NGS were further validated using ddPCR.
  • Variant allele frequencies (VAF) and specific EGFR polymorphisms were assessed.

Main Results:

  • The Idylla assay detected 14 out of 19 T790M mutations with VAF >5%, yielding a sensitivity of 74% (95% CI 49% to 90%).
  • False negative results were linked to higher EGFR control Cq values, presence of the EGFR Q787Q polymorphism in cis, and invalid T790M amplification curves.
  • The assay also failed to detect an EGFR exon 19 indel with VAF >5% in two samples.

Conclusions:

  • The Idylla EGFR Mutation Test demonstrates reduced sensitivity for T790M detection compared to NGS and ddPCR.
  • An invalid T790M amplification curve may signal a false negative result, requiring confirmation with an orthogonal method.
  • Clinical utility of the Idylla assay for T790M requires careful consideration due to potential false negatives.