Detection of EGFR Somatic Mutations in Non-Small Cell Lung Cancer (NSCLC) Using a Novel Mutant-Enriched Liquidchip (MEL) Technology

Li      Zhang; Huiyi      Yang; Yanwei      Zhao; Wenchao      Liu; Shiyang      Wu; Jiaying      He; Xiaodi      Luo; Zeyao      Zhu; Jiasen      Xu; Qinghua      Zhou; Lifen      Ren-Heidenreich

doi:10.2174/138920012802138660

Abstract

We have developed and standardized a novel technology, mutant-enriched liquidchip (MEL), for clinical detection of EGFR mutations. The MEL integrates a mutant-enriched PCR procedure with liquidchip technology for detections of EGFR exon 19 deletions and L858R mutation on both formalin-fixed and paraffin-embedded (FFPE) slides and plasma samples from patients with non-small cell lung cancer (NSCLC). The detection sensitivity was 0.1% of mutant DNA in the presence of its wild-type DNA. The cross-reaction rate was lower than 5%. To evaluate the MEL platform, the EGFR mutation status of 59 patients with advanced NSCLC treated with EGFRTKIs (Tyrosine Kinase Inhibitors) were tested on their FFPE samples. EGFR exon 19 deletions and L858R were detected in 21 patients (21/59) and 76.2% (16/21) of them had partial response to the EGFR-TKIs, while by sequencing method, only 4 (4/59) mutations were detected. Plasma samples from 627 patients with various stages of NSCLC were examined with the MEL and 22% of EGFR exon 19 deletions and L858R were detected. Furthermore, in patients with advanced disease there are more mutations detected in plasma samples than in patients with less advanced disease. In conclusion, the MEL is a sensitive, stable, and robust technology for detecting EGFR DNA mutations from both FFPE and plasma samples from patients with NSCLC and is now routinely used for clinical diagnosis.

Keywords: EGFR, somatic mutation, exon 19 deletions and L858R, targeted therapy, NSCLC, mutant-enriched liquidchip.

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