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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Standardizing preanalytical variables for molecular cytopathology
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Clinical validation of a highly sensitive assay to detect EGFR mutations in plasma cell-free DNA from patients with advanced lung adenocarcinoma.
Yuping Li,Han-Yan Xu,Shanshan Su,Junru Ye,Junjie Chen,Xuru Jin,Quan Lin,Dongqing Zhang,Caier Ye,Chengshui Chen +9 more
TL;DR: ADx-SuperARMS EGFR assay is likely to be a highly sensitive and specific method to noninvasively detect plasma EGFR mutations of patients with advanced lung adenocarcinoma and could predict the efficacy of the treatment with first generation of EGFR-TKIs.
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EGFR T790M mutation testing within the osimertinib AURA Phase I study.
Simon Dearden,Helen Brown,Suzanne Jenkins,Kenneth S. Thress,Mireille Cantarini,Rebecca Cole,Malcolm R Ranson,Pasi A. Jänne +7 more
TL;DR: Within the osimertinib AURA Phase I study, EGFR mutation testing across three centralized laboratories using the cobas® EGFR Mutation Test was feasible and successful, with strong concordance between local and central laboratory results, including for T790M.
Journal ArticleDOI
Proceedings of the American Society of Cytopathology companion session at the 2019 United States and Canadian Academy of Pathology Annual meeting, part 2: effusion cytology with focus on theranostics and diagnosis of malignant mesothelioma.
TL;DR: The role of theranostics and the diagnosis of malignant mesothelioma, as was discussed at the 2019 United States and Canadian Academy of Pathology meeting, have been highlighted.
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Comparison of plasma ctDNA and tissue/cytology-based techniques for the detection of EGFR mutation status in advanced NSCLC: Spanish data subset from ASSESS.
E. Arriola,A Paredes-Lario,R García-Gomez,P Diz-Tain,Manuel Constenla,C García-Girón,G Márquez,Martin Reck,Guillermo Lopez-Vivanco +8 more
TL;DR: The high concordance between the different DNA sources for EGFR mutation testing supports the use of plasma samples when tumor tissue is unavailable, and this therapeutic decision may be challenging when insufficient tumors tissue is available.
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Gefitinib or Chemotherapy for Non–Small-Cell Lung Cancer with Mutated EGFR
Makoto Maemondo,Akira Inoue,Kunihiko Kobayashi,Shunichi Sugawara,Satoshi Oizumi,Hiroshi Isobe,Akihiko Gemma,Masao Harada,Hirohisa Yoshizawa,Ichiro Kinoshita,Yuka Fujita,Shoji Okinaga,Haruto Hirano,Kozo Yoshimori,Toshiyuki Harada,Takashi Ogura,Masahiro Ando,Hitoshi Miyazawa,Tomoaki Tanaka,Yasuo Saijo,Koichi Hagiwara,Satoshi Morita,Toshihiro Nukiwa +22 more
TL;DR: First-line gefitinib for patients with advanced non-small-cell lung cancer who were selected on the basis of EGFR mutations improved progression-free survival, with acceptable toxicity, as compared with standard chemotherapy.
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