Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test
| Autor: | Angie Li, Christopher Lewis, J. Mark Elwood, Phyu Sin Aye, Nicola Kingston, Sandar Tin Tin, Phillip Shepherd, Mark J. McKeage, George Laking, Donald R. Love, Karen L. Sheath, Prashannata Khwaounjoo |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Pathology medicine.medical_treatment Gene mutation Targeted therapy 03 medical and health sciences 0302 clinical medicine Internal medicine Medicine Epidermal growth factor receptor Lung cancer biology mutation testing business.industry Agreement analysis targeted therapy medicine.disease Test (assessment) agreement analysis lung cancer 030104 developmental biology Real-time polymerase chain reaction 030220 oncology & carcinogenesis Mutation testing biology.protein epidermal growth factor receptor business Research Paper |
| Zdroj: | Oncotarget |
| ISSN: | 1949-2553 |
| Popis: | To investigate the clinical validity and utility of tests for detecting Epidermal Growth Factor Receptor (EGFR) gene mutations in non-squamous non-small cell lung cancer patients, tumour DNA extracts from 532 patients previously tested by the cobas EGFR Mutation Test (RT-PCR test) were retested by the Sequenom/Agena Biosciences MassArray OncoFocus mass spectrometry test (MS test). Valid results from both tests were available from 470 patients (88%) for agreement analysis. Survival data were obtained for 513 patients (96%) and 77 patients (14%) were treated with EGFR tyrosine kinase inhibitors (TKIs). Agreement analysis revealed moderately high positive (79.8%), negative (96.9%) and overall percentage agreement (93.2%) for the detection of EGFR mutations. However, EGFR mutations were detected by one test and not by the other test in 32 patients (7%). Retesting of discordant samples revealed false-positive and false-negative results generated by both tests. Despite this, treatment and survival outcomes correlated with the results of the RT-PCR and MS tests. In conclusion, this study provides evidence of the clinical validity and utility of the RT-PCR and MS tests for detection of EGFR mutations that predict prognosis and benefit from EGFR-TKI treatment. However, their false-positive and false-negative test results may have important clinical consequences. |
| Databáze: | OpenAIRE |
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