A novel method for detection of mutation in epidermal growth factor receptor

Zhao, Jinyin; Zhao, Jing; Huang, Jie; Chen, Yan; Jiang, Jun; Wu, Weili; Wang, Pengzhi; Liu, Licheng; Li, Longyun; Wu, Lin; Wang, Mengzhao; Chen, Weijun

doi:10.1016/j.lungcan.2011.02.015

Cited by 14 publications

(6 citation statements)

References 32 publications

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“…However, as most lung cancers are found to be advanced upon diagnosis and cannot be surgically resected and samples obtained by bronchoscope or percutaneous lung biopsy are too small to use for EGFR mutation detection, new sample types to replace or supplement tissue samples to detect EGFR mutations have become a focus of current research. Zhao et al (2011) found that the total EGFR mutation rate was 30% in tissue specimens from 100 patients with lung adenocarcinoma, including 16% with exon 19 deletions, 13% with exon 21 mutations, and 1% with exon 20 mutations. The total EGFR mutation rate was slightly lower than our results in tissue samples (34%), which may be associated with the limited number of patients enrolled in our study.…”

Section: Discussionmentioning

confidence: 99%

Comparison of EGFR mutation rates in lung adenocarcinoma tissue and pleural effusion samples

Guan

Wang

et al. 2016

Genet. Mol. Res.

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ABSTRACT.The goal of the current study was to investigate the differences in epidermal growth factor receptor (EGFR) mutation rates in tumor tissue and pleural effusion specimens from patients with lung adenocarcinoma. PCR amplification and gene sequencing were used to detect EGFR mutations in exons 18, 19, 20, and 21 in tumor tissue and pleural effusion samples from 50 patients with advanced lung adenocarcinoma. The EGFR mutation rate was 34.0% in tissue samples from patients with advanced lung adenocarcinoma. There were 11 cases with exon 19 mutations and 6 cases with exon 21 mutations. The EGFR mutation rate was 30.0% in pleural effusion specimens, including 10 cases with exon 19 mutation and 5 cases with exon 21 mutations. Although the tissue samples had a slightly higher mutation rate compared to the pleural effusion samples, the difference was not statistically significant. These results indicate that the EGFR mutation rate detected in pleural effusion specimens from patients with advanced lung adenocarcinoma is similar to that detected in tumor tissue samples. Therefore, pleural effusion specimens can potentially be used for EGFR mutation detection in advanced lung adenocarcinoma.

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Section: Discussionmentioning

confidence: 99%

Comparison of EGFR mutation rates in lung adenocarcinoma tissue and pleural effusion samples

Guan

Wang

et al. 2016

Genet. Mol. Res.

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“…The majority of these studies investigated the use of PCR-based methods to specifically detect exon 19 deletions, the exon 21 L858R point mutation, and, in some cases, other less common but known EGFR mutations. [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] In these studies, which varied in their use of frozen and/or FFPE tissue samples, virtually all samples testing positive for known mutations by direct sequencing were also detected by the PCR-based screening methods under investigation. Moreover, the targeted methods detected mutations in samples that had tested negative by direct sequencing.…”

Section: Targeted Methodsmentioning

confidence: 99%

EGFRmutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples

Zhu²,

et al. 2012

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AimsActivating 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.MethodsWe searched the MEDLINE database for studies reporting on EGFR mutation testing methods in patients with lung cancer.ResultsVarious 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.ConclusionsSeveral 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.

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“…We used our previously reported mutation‐enriched ARMS TaqMan PCR15 method to screen for the known EGFR‐activating mutations. In the 78 samples, 36 EGFR‐activating mutations were detected: 21 samples with mutations in exon 19 and 15 samples with mutations in exon 21.…”

Section: Resultsmentioning

confidence: 99%

“…A number of methods use this approach, including amplification refractory mutation system (ARMS),5 Scorpion ARMS PCR,6, 7 allele‐specific competitive PCR,8 blocker‐PCR,9 PNA‐mediated blocker PCR10 and LNA‐mediated blocker PCR 11, 12. Another approach uses restriction endonucleases to destroy wild‐type (or mutated) PCR products; the methods that use this strategy include RFLP analysis,13 PCR‐RIRA14 and mutant‐enriched PCR15. Other methods for detecting mutant alleles include COLD‐PCR,16 Digital PCR,17 PAP,18 Endo V‐ligase PCR,19 sRT‐MELT,20 FLAG assay21 and so on.…”

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confidence: 99%

Restriction endonuclease‐mediated real‐time digestion‐PCR for somatic mutation detection

Zhao

Xie

Zhong

et al. 2012

Intl Journal of Cancer

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PCR is a powerful platform for clinical and diagnostic applications, but challenges remain in detecting somatic mutations, as mutant cells are often mixed with more numerous wild‐type cells at the tissue‐sample sites. Here, we describe a novel method that couples PCR with restriction endonuclease digestion (designated real‐time digestion‐PCR, or RTD‐PCR) in a one‐step reaction tube for detecting somatic mutations from a minority of cells. The PCR mixture contains a thermostable restriction enzyme that digests wild‐type alleles during the PCR program, allowing selective amplification of the mutant alleles. To validate this method, we used real‐time digestion‐PCR for the specific detection of the EGFR (epidermal growth factor receptor) treatment resistance‐inducing mutation, T790M, combining with three different platforms: Sanger sequencing, TaqMan probe PCR and Sequenom MassArray. From 78 clinical samples, seven T790M mutations were consistently detected on all three platforms, indicating that RTD‐PCR may be a useful clinical tool for analyzing the T790M point mutation.

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A novel method for detection of mutation in epidermal growth factor receptor

Cited by 14 publications

References 32 publications

Comparison of EGFR mutation rates in lung adenocarcinoma tissue and pleural effusion samples

Comparison of EGFR mutation rates in lung adenocarcinoma tissue and pleural effusion samples

EGFRmutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples

Restriction endonuclease‐mediated real‐time digestion‐PCR for somatic mutation detection

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