Nov 20, 2012 beaufaller m, degeorges a, rolland e, et al. The cobas egfr mutation test v2 is built upon the success of the cobas egfr mutation test available in the u. Aug 15, 2014 search strategy and selection criteria. The proportions of positive, negative and unknown egfr. Profile of the roche cobas egfr mutation test v2 for non.
Egfr mutation testing in blood for guiding egfr tyrosine kinase. In certain situations, dna that has been shed from tumor cells in ones blood can also be tested and may be informative liquid biopsy. G719a 18 g719s sensitive to egfr tki treatment 1, 7, 8 6252 c. The discovery of driver mutations in nonsmall cell lung cancer nsclc has led to. Testing an nsclc patient for egfr mutations can be helpful to select patients who. Mutations in the epidermal growth factor receptor egfr gene, exons 18 to 21, have been identified in patients with lung adenocarcinomas. Lung cancer is a type of cancer that starts in the lungs. Various methods have been investigated as potential alternatives to the historical standard for egfr mutation testing, direct dna sequencing. The detection limit of the kit, when the mutated gene is mixed with wildtype dna, is less than 1%. Defined egfr mutations are detected using dna isolated from formalinfixed paraffinembedded tumor tissue ffpet or circulatingfree tumor dna cfdna from plasma derived from edta anticoagulated peripheral whole blood. Egfr erbb1, her2neu erbb2, her 3 erbb3 and her 4 erbb4. This testing detects the presence of specific activating mutations in the egfr gene in the dna of cells in tumour tissue.
Egfr mutation test market study with market size, share, valuation, segmentwise analysis, competitive landscape analysis, regulatory framework analysis and impact of covid19 outbreak on egfr mutation test industry. Roche receives fda approval for cobas egfr mutation test v2. Many studies have been published on the mutational status of patients with lung adenocarcinomas, and great populationbased variability in mutation frequencies has been reported. Egfr mutation test v2 test results using plasma specimens for the presence of egfr exon 19 deletions or l858r mutations are eligible for treatment with tarceva erlotinib. Roches cobas egfr mutation test v2 is designed to identify exon 19 deletions.
However, when this protein becomes too active, it can lead to cancer growth. Two classes of egfr mutations, exon 19 deletions and exon 21 l858r substitutions, are the most frequent mutations representing 8590%. In july 2015, gefitinib was approved by the fda as firstline treatment of patients with metastatic nsclc whose tumors have egfr exon 19 deletions or exon 21 l858r substitution mutations, as detected by an fdaapproved test. If the mutationstatus test determines that your tumour is egfr mutationnegative, your doctor will likely treat your cancer with chemotherapy. Nsclc predictive testing mutations detected by the egfr mutation analysis assay exon mutation egfr tki therapy response references cosmic base change amino acid associated with mutation id cds mutation change g719a 6239 c. Carbone, director of the thoracic center and professor of medicine at. Tk mutation test results for the therascreen egfr pcr kit were 32. The cobas egfr mutation test v2 is a realtime pcr test for the qualitative detection of defined mutations of the epidermal growth factor receptor egfr gene in nonsmall cell lung cancer nsclc patients. Egfr mutation detection in circulating cellfree dna of lung.
The cobas egfr mutation test v2 is a realtime pcr test that identifies 42 mutations in exons 18, 19, 20 and 21 of the epidermal growth factor receptor egfr gene, including the t790m resistance mutation it is designed to enable testing of both tissue and plasma specimens with a single kit, and allows labs to run tissue and plasma on the same plate. The testing procedure involves three 3 simple steps, which can be completed in approximately 2 hours from isolation of dna to test results. The epidermal growth factor receptor is a member of the erbb family of receptors, a subfamily of four closely related receptor tyrosine kinases. The main objective of the present study was to analyze the egfr, kras and alk mutation status in a representative cohort of patients in croatia with lung adenocarcinomas and to correlate the mutational. The cobas egfr mutation test v2 is a realtime pcr test that identifies 42 mutations in exons 18, 19, 20 and 21 of the epidermal growth factor receptor egfr gene, including the t790m resistant mutation. For nonsmall cell lung cancer nsclc, brain metastases have been reported to affect about 2040% of patients. Tagrisso osimertinib, an irreversible inhibitor of both egfr tkisensitizing and t790m resistance mutations in advanced nsclc, inhibits the kinase activity of. Egfr mutation status on brain metastases from nonsmall. Pdf an evaluation study of egfr mutation tests utilized for. Egfr is a type of protein found on the surface of cells in the body. If the mutation status test determines that your tumour is egfr mutation negative, your doctor will likely treat your cancer with chemotherapy.
What is egfr and how does it relate to lung cancer. The main objective of the present study was to analyze the egfr, kras and alk mutation status in a representative cohort of patients in croatia with lung adenocarcinomas and to correlate the mutational status with. V121 e1079 e711 f359 t384 r836 q390 egfr mutant positions in bladder urothelial carcinoma n396 0. Egfr mutation testing is essential to screen candidates before egfrtki treatment and select. Egfr tki sensitivity and resistance mutation indication. Mutations in the egfr gene that lead to overexpression of the protein have been associated with an adverse cancer prognosis. Egfr mutation test v2 is a real time pcr test for the qualitative detection of defined mutations of the epidermal growth factor receptor egfr gene in dna derived from formalinfixed paraffinembedded tumor tissue ffpet from nonsmall cell lung cancer nsclc patients. An evaluation study of egfr mutation tests utilized for nonsmallcell lung cancer in the diagnostic setting article pdf available in annals of oncology 2311. Principle of the pna egfr mutation detection kit the pna egfr mutation detection kit can rapidly detect egfr mutation within 2 h with high sensitivity even with a small amount of dna 2550 ng. Here, we demonstrate that mutations can be detected in plasma samples with allelespecific pcr assays.
May 24, 2019 the cobas egfr mutation test v2 in conjunction with the cobas 4800 system provides the option of using ffpe tissue or plasma. A number of actionable genetic alterations have been identified, such as the epidermal growth factor receptor egfr mutation. In 2125 84% cases, cytological sampling was sufficient for egfr mutation analysis, compared with 4045 89% cases with histological sampling. Egfr mutation analysis cleveland clinic laboratories. Egfr mutation testing was not carried out in 2270 31. Lynch and colleagues may 20 issue 1 suggests that specific mutations in the epidermal growth factor receptor egfr characterize a subgroup of nonsmallcell lung cancers that may be highly responsive to gefitinib therapy. Gefitinib was the first egfr tki evaluated in a phase iii trial.
Erbb2 has no known direct activating ligand, and may be in an activated state constitutively or become active upon heterodimerization with other family members such as egfr. Egfr mutations and sensitivity to gefitinib to the editor. Pdf egfr mutation incidence in nonsmallcell lung cancer. A number of genetic drivers of tumour growth have been identified in patients with nonsmall cell lung cancer nsclc. For solid tumors, tumor enrichment is performed before extraction. Entrogens egfr mutation analysis kit is a realtime polymerase chain reaction pcrbased assay that uses mutantspecific probes to identify the presence of egfr mutations.
Defined egfr mutations are detected using dna isolated from formalinfixed paraffinembedded tumor tissue ffpet or circulatingfree. The development of targeted mutation testing methods and commercially available test kits has enabled sensitive, rapid and robust analysis of. This application will be valuable for laboratories with whose purpose is purely diagnostic and lacking highthroughput technologies. Egfr is a short name for the epidermal growth factor receptor gene.
Pairs of the diagnostic biopsy and plasma obtained just prior to start. The safety and effectiveness of the cobas egfr mutation test was established with clinical data from the eurtac study and showed progressionfree survival in patients with nsclc who had specific types of egfr mutations exon 19 deletions or exon 21 l858r substitution mutations for 10. Tk mutation test results for sanger sequencing of exons 18 to 21 were 29. The testing procedure involves three 3 simple steps, which can be completed in approximately 2 hours from dna to test results. The egfr gene codes for a specialised protein called a receptor located on the surface of cells. Request pdf profile of the roche cobas egfr mutation test v2 for nonsmall cell lung cancer introduction. Pdf an evaluation study of egfr mutation tests utilized. Epidermal growth factor receptor egfr is a transmembrane protein that is activated by binding of its specific ligands, including epidermal growth factor and transforming growth factor. The cobas egfr mutation test v2 is a companion diagnostic test that supports iressa as an additional therapeutic option for patients and. Medical studies have shown that patients with egfr mutationnegative tumours gain more benefit from chemotherapy than with targeted therapies.
In egfr mutation negative patients who are difficult to obtain tissue, repeating test using pyrosequencing or pna clamping is recommended to improve the detection rate of egfr mutation than only. Egfr mutation detection in circulating cellfree dna of. The nhc has completed a reactive referral assessment on epidermal growth factor receptor egfr mutation testing in nonsmall cell lung cancer nsclc and targeted treatment with egfr tyrosine kinase inhibitors tkis as an example of a codependent technology. Epidermal growth factor receptor egfr mutation tests are in vitro diagnostic ivd tests used to help identify adults with nonsmallcell lung. It is designed to enable testing of both tissue and plasma specimens with a single kit, and allows labs to run tissue and plasma on the same plate. Bidirectional sequencing of exons 2 and 3 of the kras gene. Epidermal growth factor receptor egfr mutation testing in tumor tissue is now a common practice in selecting nonsmall cell. Jul 09, 2012 an evaluation study of egfr mutation tests utilized for nonsmallcell lung cancer in the diagnostic setting article pdf available in annals of oncology 2311. There have been advances in the identification and understanding of molecular subsets of lung cancer, defined by specific oncogenic aberrations. Crossvalidation study for epidermal growth factor receptor and kras mutation detection in 74 blinded nonsmall cell lung carcinoma samples. Highsensitivity sequencing is used for enhanced detection of mutations in codons 12, 59, and 61. Egfr mutation testing is used primarily to help guide treatment and determine whether someone with nonsmall cell lung cancer nsclc may benefit from targeted therapy such as with the tyrosine kinase inhibitors tkis gefitinib and erlotinib.
How to run a test using the cobas liat system from roche duration. The test is intended to aid in identifying patients. Detection of tki resistance mutations such as t790m in patients being treated with a tki is useful for planning alternate treatment. Lung cancer patients with mutations in the epidermal growth factor receptor egfr are primary candidates for egfrtargeted therapy. Comparison of cobas egfr mutation test v2 and panamutyperr.
Egfr mutation test results detailed assay test name assay name mutation detected. Egfr mutation detection in circulating cellfree dna of lung adenocarcinoma patients. In many cancer types, mutations affecting egfr expression or activity could result in cancer epidermal growth factor and its receptor was discovered by stanley cohen of vanderbilt. Egfr mutations in patients with nonsmall cell lung cancer. Mar 28, 2018 a mutation to the gene controlling egfr production also results in changes to the way the receptor behaves, says dr. This test detects mutations in the egfr gene in cancer tissue. The roche cobas egfr mutation test v2, based on real time rtpcr, is a reliable option for testing egfr mutations in clinical practice, either using tissuederived dna or plasmaderived cfdna.
Dna from tumor cells is tested for mutations in this gene. However, as improvements are made in the treatment of nsclc, patients are living longer with a greater opportunity to develop spread to the brain. We aimed to establish the reasons why patients were not undergoing egfr mutation testing at the time of. There was insufficient tumour sample for egfr testing in 922 40.
L858r in exon 21 are the most frequent in nsclc and are considered to be so. Mutation testing was conducted on dna extracted from paraffinembedded, formalinfixed tumor material using the following realtime polymerase chain reactionbased kits. Sep 21, 2016 many studies have been published on the mutational status of patients with lung adenocarcinomas, and great populationbased variability in mutation frequencies has been reported. This information is useful in guiding treatment of nonsmall cell lung cancer. Egfr mutation testing lab tests online au blood test. Many of these are targeted methods that specifically detect the most common egfr mutations. However which is the best blood egfr mutation testing method remains unclear. Patients who are negative for these mutations by thi s test should be reflexed to routine biopsy and testing for egfr mutations with the ffpet sample type. Egfr mutation status on brain metastases from nonsmall cell. Egfrtki deletions in exon 19 yes no fail data supporting sensitivity to egfrtki l858r yes no fail g719s yes no fail currently limited data supporting sensitivity to egfrtki g719a yes no fail g719c yes no fail. Reliable analyses of such mutations have previously been possible only in tumour tissue. Impact of cytological sampling on egfr mutation testing in.
Exon 19 lrea framedeletion mutations and the singlepoint substitution mutation. Egfr tki deletions in exon 19 yes no fail data supporting sensitivity to egfr tki l858r yes no fail g719s yes no fail currently limited data supporting sensitivity to egfr tki g719a yes no fail g719c yes no fail. Defined egfr mutations are detected using dna isolated from formalinfixed paraffinembedded tumor tissue ffpet or circulatingfree tumor dna cfdna from plasma derived from. We searched the pubmed, embase, cochrane library as well as chinese biomedical literature databases to identify all the articles with the combination of the following keywords. The egfr gene provides instructions for a cell to make a specialized type of protein called a receptor, which is located on the. Plasma epidermal growth factor receptor egfr mutation tests are less invasive than tissue egfr mutation tests. Some metastatic nsclc tumors have a biomarker known as epidermal growth factor receptor egfr. Brain metastases are a common problem in patients with lung cancer and are associated with a poor prognosis.
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