title: Serum detection of epidermal growth factor receptor gene mutations using mutant-enriched sequencing in Chinese patients with advanced non-small cell lung cancer.
abstract: Epidermal growth factor receptor gene (EGFR) mutations are among the best predictive markers of the efficacy of EGFR tyrosine kinase inhibitor (EGFR-TKI) treatment. Mutations in the EGFR gene confer sensitivity to EGFR-TKIs in patients with advanced non-small cell lung cancer (NSCLC). This study determined the concordance rate of EGFR mutations in serum samples and tumour tissue from Chinese patients with advanced NSCLC and compared two detection methods: mutant-enriched polymerase chain reaction-based DNA sequencing and non-enriched sequencing. The EGFR mutation status in serum was consistent with that in paired tumour samples, with a concordance rate of 93.1% for mutant-enriched sequencing. In serum samples, mutant-enriched sequencing demonstrated sensitivity and specificity of 77.8% and 100%, respectively, and was more sensitive than the non-enriched assay. Mutant-enriched sequencing in serum may provide a non-invasive and sensitive method for detecting EGFR mutation status in patients with unresectable NSCLC.
authors: Department of Nuclear Medicine, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: B
authors: B
authors: Jiang
authors: F
authors: F
authors: Liu
authors: L
authors: L
authors: Yang
authors: W
authors: W
authors: Zhang
authors: H
authors: H
authors: Yuan
authors: J
authors: J
authors: Wang
authors: G
authors: G
authors: Huang
mesh_terms: D000230:Adenocarcinoma / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000097:blood; D018287:Carcinoma, Large Cell / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002289:Carcinoma, Non-Small-Cell Lung / Q000097:blood / Q000235:genetics* / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000097:blood / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D066246:ErbB Receptors / Q000097:blood / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000097:blood / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012680:Sensitivity and Specificity
chemical_list: D014408:Biomarkers, Tumor; C512478:EGFR protein, human; D066246:ErbB Receptors