Abstract
The aim of the research was to explore a cost effective, fast, easy to perform, and sensitive method for epidermal growth factor receptor (EGFR) mutation testing. High resolution melting analysis (HRM) was introduced to evaluate the efficacy of the analysis for dectecting EGFR mutations in exons 18 to 21 using formalin-fixed paraffin-embedded (FFPE) tissues and plasma free DNA from 120 patients. The total EGFR mutation rate was 37.5% (45/120) detected by direct sequencing. There were 48 mutations in 120 FFPE tissues assessed by HRM. For plasma free DNA, the EGFR mutation rate was 25.8% (31/120). The sensitivity of HRM assays in FFPE samples was 100% by HRM. There was a low false-positive mutation rate but a high false-negative rate in plasma free DNA detected by HRM. Our results show that HRM analysis has the advantage of small tumor sample need. HRM applied with plasma free DNA showed a high false-negative rate but a low false-positive rate. Further research into appropriate methods and analysis needs to be performed before HRM for plasma free DNA could be accepted as an option in diagnostic or screening settings.
Highlights
Lung cancer ranks the first cause of cancer deaths in the world
According to American national comprehensive cancer network guidelines (NCCN) for non-small cell lung cancer, epidermal growth factor receptor (EGFR)-TKI is considered as first-line treatment of Non-small cell lung cancer (NSCLC) patients with activating mutations located in EGFR exon 19 and 21
We introduced High resolution melting analysis (HRM) assays to evaluate the efficacy of the analysis for dectecting EGFR mutations in exons 18 to 21 using formalin-fixed paraffin-embedded (FFPE) tissues and plasma free DNA from 120 non-small lung cancer patients
Summary
Lung cancer ranks the first cause of cancer deaths in the world. Non-small cell lung cancer (NSCLC), as the most common histologic type of lung cancer, has a very poor prognosis and 5-year survival rate (Govindan et al, 2006).The epidermal growth factor receptor (EGFR), a member of the ErbB receptor tyrosine kinase family, is related with many human tumors (Nicholson et al, 2001). Epidermal growth factor receptor- tyrosine kinase inhibitor (EGFR-TKI) such as Iressa is the most widely used targeted therapy in lung cancer patients and it has significantly improved the overall survival of Chinese lung cancer patients (Thatcher et al, 2005). According to American national comprehensive cancer network guidelines (NCCN) for non-small cell lung cancer (version 2.2012), EGFR-TKI is considered as first-line treatment of NSCLC patients with activating mutations located in EGFR exon 19 and 21. Methods: High resolution melting analysis (HRM) was introduced to evaluate the efficacy of the analysis for dectecting EGFR mutations in exons 18 to 21 using formalin-fixed paraffin-embedded (FFPE) tissues and plasma free DNA from 120 patients. There was a low false-positive mutation rate but a high false-negative rate in plasma free DNA detected by HRM. Further research into appropriate methods and analysis needs to be performed before HRM for plasma free DNA could be accepted as an option in diagnostic or screening settings
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