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Sample features associated with success rates in population-based EGFR mutation testing.

Carolyn J Shiau1, Jesse P Babwah2, Gilda da Cunha Santos2

  • 1Department of Pathology, University Health Network, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Department of Pathology, Royal Columbian Hospital, New Westminster, British Columbia, Canada.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer
|June 13, 2014
PubMed
Summary
This summary is machine-generated.

EGFR mutation testing is successful in most non-small cell lung cancer specimens, including cytology and histology. Tumor cellularity impacts success, but mutations are detectable even in suboptimal samples.

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Pathology

Background:

  • Epidermal growth factor receptor (EGFR) mutation testing is crucial for advanced non-small-cell lung cancer (NSCLC) treatment decisions.
  • This study evaluated sample-related factors affecting EGFR testing success in a large North American NSCLC cohort.

Purpose of the Study:

  • To determine factors influencing the success rate of clinical EGFR mutation testing in NSCLC.
  • To assess the impact of specimen type (histology vs. cytology) and cellularity on EGFR testing outcomes.

Main Methods:

  • A 24-month review of province-wide EGFR testing data from a centralized Canadian laboratory.
  • Samples were analyzed for common EGFR mutations (exon-19 deletion, exon-21 L858R) using polymerase chain reaction with 1-5% sensitivity.

Main Results:

  • Out of 2651 submitted samples, 2404 were tested, with 2293 eligible for analysis. The overall test-failure rate was 5.4%, and the mutation rate was 20.6%.
  • No significant differences in failure or mutation rates were observed between histology and cytology specimens.
  • Tumor cellularity was associated with test success, and EGFR mutations were detected across all specimen types, including TTF-1 negative and mucinous cases.

Conclusions:

  • EGFR mutation testing should be attempted on all available specimens, regardless of histologic or cytologic type.
  • Specimen cellularity is important, and suboptimal samples with negative results may warrant repeat testing.
  • Pathologists should report tumor cellularity, and testing should not be excluded based on TTF-1 status or histologic features.