A comparative study of EGFR oncogenic mutations in matching tissue and plasma samples from patients with advanced non-small cell lung carcinoma.
作者： Xiaofei Chai , Pengfei Ren , Bing Wei , Jie Ma , Ling Mai
DOI: 10.1016/J.CCA.2016.04.003
关键词: Genotype 、 Biology 、 Tumour heterogeneity 、 T790M 、 Carcinoma 、 Genotyping 、 Pathology 、 Exon 、 Mutation 、 Concordance
摘要: Abstract Background Plasma based EGFR mutation analysis is emerging as a viable alternative to tumour tissue genotyping for patients with non-small cell lung carcinoma (NSCLC). The purpose of the study was determine degree concordance between genotypes derived from matching and blood samples. Methods activating mutations L858R, exon 19 deletions, G719A/C/S L861Q well resistance T790M 20 insertions were co-analysed in 61 biopsies collected NCSLC patients. Tissue plasma performed by amplification refractory system PCR (ARMS-PCR) circulating single molecule re-sequencing technology (cSMART), respectively. Results Of paired samples, 44 (72.1%) fully concordant, 2 (3.3%) partially concordant 15 (24.6%) discordant genotypes. discordance bidirectional failing reveal equivalent eight nine cases, Benchmarking against ARMS-PCR biopsy results gold standard, sensitivity rates detection cSMART assay 72.7% 90.2% (L858R), 86.9% (exon deletions) 100% 98.4% (T790M). Conclusions highly reliable accurate genotyping. Based on trends, heterogeneity suspected be major factor preventing diagnosis
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