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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