Abstract:

Objective To investigate the clinical significance of a new 3D digital polymerase chain reaction（PCR） technology platform for detecting epidermal growth factor receptor（EGFR） T790M gene mutation in patients with non-small cell lung cancer（NSCLC）. Methods A total of 70 plasma samples from NSCLC patients with first-generation EGFR-tyrosine kinase inhibitor（TKI） resistance were collected. Detection of EGFR T790M gene mutation was performed by amplification refractory mutation system（ARMS） and 3D digital PCR. If the results were different,tissue wax samples in the same period were collected and validated by ARMS. Results Of the 70 plasma samples,EGFR T790M gene mutation was detected in 30 cases by ARMS and 34 cases by 3D digital PCR. Among the 4 plasma samples,3D digital PCR showed positive for EGFR T790M gene mutation,while ARMS showed wild type. Kappa consistency test and paired χ² test results showed that there was a good agreement between the 2 methods,and the Kappa value was 0.885（P<0.001）. Conclusions 3D digital PCR can be used to detect plasma EGFR T790M gene mutation in patient with NSCLC,and it can detect the cases missed by ARMS.

Key words: Non-small cell lung cancer, Epidermal growth factor receptor, T790M, Circulating tumor DNA, 3D digital polymerase chain reaction