title: Direct serum and tissue assay for EGFR mutation in non-small cell lung             cancer by high-resolution melting analysis.
abstract: Biological therapy with epidermal growth factor receptor tyrosine kinase             inhibitors (EGFR-TKIs) have noted promising outcomes for patients with non-small             cell lung carcinoma (NSCLC), especially those with mutated EGFR. Tissue EGFR gene             mutation testing can predict the benefit of taking a first-line EGFR-TKI, thus,             allowing the physician to prescribe the most suitable therapy. Unfortunately,             most lung cancer patients, especially NSCLC patients present with advanced disease             that is surgically unresectable. The goal of this study was to develop high-resolution             melting (HRM) assays to detect EGFR mutations in exons 18 to 21, compare their             sensitivity and concordance to direct sequencing, and evaluate the feasibility             and reliability of serum as a tissue alternate for routine EGFR mutation screening.             EGFR mutations of 126 Formalin-Fixed Paraffin-Embedded (FFPE), 47 fresh frozen             tissues and from 47 matched pre-operation serum specimens of NSCLC patients were             screened by the HRM assays. EGFR mutations by HRM were confirmed through sequencing.             We found 78 EGFR mutations in 70 FFPE tissues, 25 EGFR mutations in 24 fresh frozen             tissues, with a mutation rate of 55.56% (70/126) and 51.06% (24/47), respectively.             Most mutations were correctly identified by sequencing. EGFR mutations were detected             in 22 serum samples from 24 tissue EGFR mutation-positive patients. The concordance             rate between serum and tissue in EGFR mutation screening was 91.67%. We conclude             that the HRM assay can provide convincing and valuable results both for serum             and tissues samples, thus, it is suitable for routine serum EGFR mutation screening             for NSCLC patients, especially those surgically unresectable.
authors.affiliation: Department of Laboratory Medicine, General Hospital of Jinan Military Command, Jinan, Shandong 250031, PR China. med-lab@yahoo.cn
authors.forename: Chengjin
authors.initials: C
authors.lastname: Hu
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Liu
authors.forename: Yingjian
authors.initials: Y
authors.lastname: Chen
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Sun
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Gong
authors.forename: Ming
authors.initials: M
authors.lastname: Geng
authors.forename: Liquan
authors.initials: L
authors.lastname: Bi
mesh_terms: D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000188:drug therapy / Q000235:genetics*; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D057166:High-Throughput Screening Assays; D006801:Humans; D008175:Lung Neoplasms / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D057285:Precision Medicine
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; C512478:EGFR protein, human; D066246:ErbB Receptors