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Conventional real-time PCR-based detection of T790M using tumor tissue or blood in patients with EGFR TKI-resistant NSCLC

Authors Wu Y, Tong R, Zhang Y, Hu B, Zheng K, Ding Z, Peng F, Gong Y, Liu Y, Lu Y

Received 12 March 2017

Accepted for publication 6 June 2017

Published 5 July 2017 Volume 2017:10 Pages 3307—3312


Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Narasimha Reddy Parine

Peer reviewer comments 3

Editor who approved publication: Dr Ingrid Espinoza

Ya-Lan Wu,1,2,* Rui-Zhan Tong,1,* Yan Zhang,1,* Bin-bin Hu,1 Ke Zheng,3 Zhen-Yu Ding,1 Feng Peng,1 You-Ling Gong,1 Yong-Mei Liu,1 You Lu1

1Department of Thoracic Oncology, Cancer Center, 2Department of Oncology, Chengdu Shang Jin Nan Fu Hospital, 3Department of Pathology, West China Hospital, Sichuan University, People’s Republic of China

*These authors contributed equally to this work

Abstract: Blood biopsy has many advantages over tissue biopsy for diagnosing acquired T790M mutation in patients with non-small-cell lung cancer, such as being less risky and painful. New techniques with high sensitivity (eg, droplet digital PCR) show promising results during blood biopsy, but the positive rates of identification are still quite unclear. Whether there are other factors, except technology, affecting the results of blood biopsy is unclear. In this study, we used conventional amplification refractory mutation system to detect tumor tissue or blood for T790M mutation in patients clinically resistant to tyrosine kinase inhibitors. A total of 45 patients treated at West China Hospital between 2014 and 2016 were analyzed. The positive rate of T790M mutation was 70.8% based on tissue biopsy and 37.5% based on blood biopsy. Of the 24 patients whose epidermal growth factor receptor gene was genotyped through tissue and blood biopsy, 10 (41.7%) were concordant for T790M mutation status (κ=0.006). Of the 17 patients positive for T790M by tissue biopsy, 7 (41.2%) were positive for T790M by blood biopsy, and 3 of these 7 were only weakly positive. Of the 7 patients negative for T790M by tissue biopsy, 2 (28.6%) were positive by blood biopsy. Our T790M detection rate is higher than that reported by other studies using digital droplet PCR. These results suggest that other factors (eg, clinical features), intrinsically connected with circulating tumor DNA level, also affect the results of blood biopsy, and thus cannot be controlled through technological optimization.

Keywords: non-small-cell lung cancer, T790M mutation, re-biopsy, liquid biopsy

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