EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples
TLDR
Cytology samples including fine needle aspirate and pleural effusion can be used successfully to determine EGFR mutation status provided that sensitive testing methods are employed, and several different testing methods offer a more sensitive alternative to direct sequencing for the detection of common EGFR mutations.Abstract:
Aims Activating mutations in the gene encoding epidermal growth factor receptor (EGFR) can confer sensitivity to EGFR tyrosine kinase inhibitors such as gefitinib in patients with advanced non-small-cell lung cancer. Testing for mutations in EGFR is therefore an important step in the treatment-decision pathway. We reviewed reported methods for EGFR mutation testing in patients with lung cancer, initially focusing on studies involving standard tumour tissue samples. We also evaluated data on the use of cytology samples in order to determine their suitability for EGFR mutation analysis.
Methods We searched the MEDLINE database for studies reporting on EGFR mutation testing methods in patients with lung cancer.
Results Various methods have been investigated as potential alternatives to the historical standard for EGFR mutation testing, direct DNA sequencing. Many of these are targeted methods that specifically detect the most common EGFR mutations. The development of targeted mutation testing methods and commercially available test kits has enabled sensitive, rapid and robust analysis of clinical samples. The use of screening methods, subsequent to sample micro dissection, has also ensured that identification of more rare, uncommon mutations is now feasible. Cytology samples including fine needle aspirate and pleural effusion can be used successfully to determine EGFR mutation status provided that sensitive testing methods are employed.
Conclusions Several different testing methods offer a more sensitive alternative to direct sequencing for the detection of common EGFR mutations. Evidence published to date suggests cytology samples are viable alternatives for mutation testing when tumour tissue samples are not available.read more
Citations
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Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology
Neal I. Lindeman,Philip T. Cagle,Dara L. Aisner,Maria E. Arcila,Mary Beth Beasley,Eric H. Bernicker,Carol Colasacco,Sanja Dacic,Fred R. Hirsch,Keith M. Kerr,David J. Kwiatkowski,Marc Ladanyi,Jan A. Nowak,Lynette M. Sholl,Robyn Temple-Smolkin,Benjamin Solomon,Lesley Souter,Erik Thunnissen,Ming-Sound Tsao,Christina B. Ventura,Murry W. Wynes,Yasushi Yatabe +21 more
TL;DR: The 2013 guideline for molecular analysis of lung cancers was largely reaffirmed with updated recommendations to allow testing of cytology samples, require improved assay sensitivity, and recommend against the use of immunohistochemistry for EGFR testing.
Journal ArticleDOI
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology
Neal I. Lindeman,Philip T. Cagle,Dara L. Aisner,Maria E. Arcila,Mary Beth Beasley,Eric H. Bernicker,Carol Colasacco,Sanja Dacic,Fred R. Hirsch,Keith M. Kerr,David J. Kwiatkowski,Marc Ladanyi,Jan A. Nowak,Lynette M. Sholl,Robyn Temple-Smolkin,Benjamin Solomon,Lesley Souter,Erik Thunnissen,Ming-Sound Tsao,Christina B. Ventura,Murry W. Wynes,Yasushi Yatabe +21 more
TL;DR: The 2013 guideline was largely reaffirmed with updated recommendations to allow testing of cytology samples, require improved assay sensitivity, and recommend against the use of immunohistochemistry for EGFR testing.
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Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing in cancer
TL;DR: Co-amplification at Lower Denaturation temperature (COLD-PCR) as mentioned in this paper is a novel form of PCR that amplifies minority alleles selectively from mixtures of wild-type and mutation-containing sequences irrespective of the mutation type or position on the sequence.
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The 2021 WHO Classification of Lung Tumors: Impact of Advances Since 2015
TL;DR: The 2019 edition of the World Health Organization (WHO) Classification of Thoracic Tumours was published earlier this year, with classification of lung tumors being one of the chapters as discussed by the authors .
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Classification and Pathology of Lung Cancer
TL;DR: Adenocarcinomas are further classified based on architectural pattern to delineate tissue types of prognostic significance in resection specimens and in small biopsy or cytology specimens to effectively select tumors for targeted molecular testing.
References
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Suitability of EBUS-TBNA Specimens for Subtyping and Genotyping of NSCLC: A Multi-Centre Study of 774 Patients
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Direct sequencing in cytological specimens as a useful strategy for detecting EGFR mutations in non-small cell lung cancer patients
Min-Chul Cho,Chang-Min Choi,Sollip Kim,Seongsoo Jang,Se-Jin Jang,Chan-Jeoung Park,Hyun-Sook Chi,Michael Peyton,Woochang Lee,Sail Chun,Sang-We Kim,Won-Ki Min +11 more
TL;DR: Combined direct sequencing and cytological analysis of body fluid specimen might be clinically useful and sensitive test for the detection of EGFR mutations in NSCLC patients.
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