The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
Sample Features Associated with Success Rates in Population-Based EGFR Mutation Testing
Open accessAbstract
Introduction Epidermal growth factor receptor (EGFR) mutation testing has become critical in the treatment of patients with advanced non-small-cell lung cancer. This study involves a large cohort and epidemiologically unselected series of EGFR mutation testing for patients with nonsquamous non-small-cell lung cancer in a North American population to determine sample-related factors that influence success in clinical EGFR testing.Methods Data from consecutive cases of Canadian province-wide testing at a centralized diagnostic laboratory for a 24-month period were reviewed. Samples were tested for exon-19 deletion and exon-21 L858R mutations using a validated polymerase chain reaction method with 1% to 5% detection sensitivity.Results From 2651 samples submitted, 2404 samples were tested with 2293 samples eligible for analysis (1780 histology and 513 cytology specimens). The overall test-failure rate was 5.4% with overall mutation rate of 20.6%. No significant differences in the failure rate, mutation rate, or mutation type were found between histology and cytology samples. Although tumor cellularity was significantly associated with test-success or mutation rates in histology and cytology specimens, respectively, mutations could be detected in all specimen types. Significant rates of EGFR mutation were detected in cases with thyroid transcription factor (TTF)-1-negative immunohistochemistry (6.7%) and mucinous component (9.0%).Conclusions EGFR mutation testing should be attempted in any specimen, whether histologic or cytologic. Samples should not be excluded from testing based on TTF-1 status or histologic features. Pathologists should report the amount of available tumor for testing. However, suboptimal samples with a negative EGFR mutation result should be considered for repeat testing with an alternate sample.
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“molecular studies of biopsy and cytologic samples with adequate material have yielded similar failure rates.40,43,44”
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“large population-based testing experiences have reported that 70% to 85% of tested samples include core needle biopsy specimens, fine-needle aspiration samples, and fluid specimens.4,40”
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EGFR Mutations and Lung Cancer
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Tan, D. S. W., Yom, S. S., Tsao, M. S., Pass, H. I., Kelly, K., Peled, N., Yung, R. C., Wistuba, I. I., Yatabe, Y., Unger, M., et al. (2016) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2016.05.008 · Cited by 201
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Metadata
- Authors
- Shiau, C. J., Babwah, J. P., da Cunha Santos, G., Sykes, J. R., Boerner, S. L., Geddie, W. R., Leighl, N. B., Wei, C., Kamel-Reid, S., Hwang, D. M., & Tsao, M.-S.
- Affiliations
- University Health Network (CA)
- University of Toronto (CA)
- Corresponding author
- Tsao, Ming-Sound
- ORCID
- Venue
- Journal of Thoracic Oncology
- Publisher
- Elsevier BV
- Published
- 2014-07
- Volume
- 9
- Issue
- 7
- Pages
- 947-956
- ISSN
- 1556-0864 (ISSN-L)
- OpenAlex
- W2003360283
- Cited by
- 78
- References
- 46
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 2 · 2023: 6 · 2022: 10 · 2021: 7 · 2020: 5 · 2019: 5 · 2018: 10 · 2017: 12 · 2016: 8 · 2015: 5 · 2014: 2
- FWCI
- 7.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Thoracic Oncology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- AstraZeneca Canada
- Ontario Ministry of Health and Long-Term Care
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Treatments and Mutations
- Health Sciences › Medicine › Oncology › HER2/EGFR in Cancer Research
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Lung Cancer Diagnosis and Treatment
- Keywords
- EGFR mutation testing, non-small cell lung cancer, test failure rate, tumor cellularity, cytology specimens, exon 19 deletion, L858R mutation, retesting
- MeSH terms
- Thyroid Nuclear Factor 1, Base Sequence, Biopsy, Needle, Canada, Carcinoma, Non-Small-Cell Lung, Cytological Techniques, DNA Mutational Analysis, Exons, Female, Genetic Testing, Humans, Lung Neoplasms, Male, Nuclear Proteins, Pneumonectomy, Retrospective Studies, Transcription Factors, Sequence Deletion, ErbB Receptors
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