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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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
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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 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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References
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Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer
Fumihiro Oshita,Shoichi Matsukuma,Mitsuyo Yoshihara,Yuji Sakuma,N Ohgane,Yosuke Kameda,H Saito,Kouzo Yamada,Eiju Tsuchiya,Yohei Miyagi +9 more
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RNA is favourable for analysing EGFR mutations in malignant pleural effusion of lung cancer
Tsai Th,Kang-Yi Su,Shang-Gin Wu,Yih-Leong Chang,Luo Sc,I-Shiow Jan,Chong-Jen Yu,Yu Sl,Jin-Yuan Shih,Pan-Chyr Yang +9 more
TL;DR: It is demonstrated that EGFR sequencing using RNA as template greatly improves sensitivity for EGFR mutation detection from samples of MPE, highlighting RNA as the favourable source for analysing EGFR mutations from heterogeneous MPE specimens in NSCLC.
Journal ArticleDOI
An Alternative Method for Screening EGFR Mutation Using RFLP in Non-small Cell Lung Cancer Patients
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TL;DR: RFLP is a useful method for screening EGFR mutations and can also be applied to predicting the sensitivity of NSCLC patients to EGFR-tyrosine kinase inhibitors.
Journal ArticleDOI
Detection of gene point mutation in paraffin sections using in situ loop-mediated isothermal amplification
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Journal ArticleDOI
Mutation Detection of Epidermal Growth Factor Receptor and KRAS Genes Using the Smart Amplification Process Version 2 from Formalin-Fixed, Paraffin-Embedded Lung Cancer Tissue
Yohei Miyamae,Kimihiro Shimizu,Yasumasa Mitani,Takuya Araki,Yuki Kawai,Masaru Baba,Seiichi Kakegawa,Masayuki Sugano,Kyoichi Kaira,Alexander Lezhava,Yoshihide Hayashizaki,Koujirou Yamamoto,Izumi Takeyoshi +12 more
TL;DR: This study confirms that the SmartAmp2 assay is suitable for use with DNA extracted from FFPE as well as frozen tissues.
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