Comprehensive Analysis of the Discordance of EGFR Mutation Status between Tumor Tissues and Matched Circulating Tumor DNA in Advanced Non–Small Cell Lung Cancer

Journal of Thoracic Oncology

Volumn 12, Issue 9, 2017, Pages 1376-1387

  Wan, Rui ^a   Wang, Zhijie ^b   Lee, J Jack ^c   Wang, Shuhang ^a   Li, Qingqing ^d   Tang, Fuchou ^d   Wang, Jin ^e   Sun, Yu ^a   Bai, Hua ^b   Wang, Di ^d   Zhao, Jun ^a   Duan, Jianchun ^b   Zhuo, Minglei ^a   An, Tongtong ^a   Wu, Meina ^a   Chen, Zhaoli ^b   Yang, Zhenlin ^b   Wang, Jie ^a,b  

^a PEKING UNIVERSITY CANCER HOSPITAL AND INSTITUTE   (China)

^b CANCER HOSPITAL   (China)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d PEKING UNIVERSITY   (China)

^e THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

Author keywords

Circulating tumor DNA; Discordance of mutation; Epidermal growth factor receptor mutation; Heterogeneity; Non small cell lung cancer

Indexed keywords

CIRCULATING TUMOR DNA; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR KINASE INHIBITOR; UNCLASSIFIED DRUG; EGFR PROTEIN, HUMAN;

ADULT; ADVANCED CANCER; AGED; AMPLIFICATION REFRACTORY MUTATION SYSTEM; ARTICLE; CANCER SURGERY; CANCER TISSUE; CONTROLLED STUDY; DISCORDANCE; DROPLET DIGITAL POLYMERASE CHAIN REACTION; DRUG EFFICACY; EGFR GENE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC TRAIT; GENOTYPE; HEALTH STATUS; HUMAN; HUMAN TISSUE; LIVER METASTASIS; LUNG CARCINOGENESIS; MAJOR CLINICAL STUDY; MALE; MICRODISSECTION; NEXT GENERATION SEQUENCING; NON SMALL CELL LUNG CANCER; OVERALL SURVIVAL; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; BLOOD; GENETICS; LUNG TUMOR; MUTATION; PATHOLOGY;

AGED; CARCINOMA, NON-SMALL-CELL LUNG; DNA, NEOPLASM; FEMALE; HUMANS; LUNG NEOPLASMS; MALE; MUTATION; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 85021945579     PISSN: 15560864     EISSN: 15561380     Source Type: Journal    
DOI: 10.1016/j.jtho.2017.05.011     Document Type: Article

References (32)

1. Mok, T.S., Wu, Y.L., Thongprasert, S., et al. Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 361 (2009), 947–957.
2. Maemondo, M., Inoue, A., Kobayashi, K., et al. Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N Engl J Med 362 (2010), 2380–2388.
3. Mitsudomi, T., Morita, S., Yatabe, Y., et al. Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trial. Lancet Oncol 11 (2010), 121–128.
4. Zhou, C., Wu, Y.L., Chen, G., et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol 12 (2011), 735–742.
5. Wu, Y.L., Zhou, C., Hu, C.P., et al. Afatinib versus cisplatin plus gemcitabine for first-line treatment of Asian patients with advanced non-small-cell lung cancer harbouring EGFR mutations (LUX-Lung 6): an open-label, randomised phase 3 trial. Lancet Oncol 15 (2014), 213–222.
6. Costa, D.B., Kobayashi, S., Tenen, D.G., Huberman, M.S., Pooled analysis of the prospective trials of gefitinib monotherapy for EGFR-mutant non-small cell lung cancers. Lung Cancer 58 (2007), 95–103.
7. Xue, C., Hu, Z., Jiang, W., et al. National survey of the medical treatment status for non-small cell lung cancer (NSCLC) in China. Lung Cancer 77 (2012), 371–375.
8. Bai, H., Mao, L., Wang, H.S., et al. Epidermal growth factor receptor mutations in plasma DNA samples predict tumor response in Chinese patients with stages IIIB to IV non-small-cell lung cancer. J Clin Oncol 27 (2009), 2653–2659.
9. Oxnard, G.R., Paweletz, C.P., Kuang, Y., et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin Cancer Res 20 (2014), 1698–1705.
10. Mok, T., Wu, Y.L., Lee, J.S., et al. Detection and dynamic changes of EGFR mutations from circulating tumor DNA as a predictor of survival outcomes in NSCLC patients treated with first-line intercalated erlotinib and chemotherapy. Clin Cancer Res 21 (2015), 3196–3203.
11. Goto, K., Ichinose, Y., Ohe, Y., et al. Epidermal growth factor receptor mutation status in circulating free DNA in serum: from IPASS, a phase III study of gefitinib or carboplatin/paclitaxel in non-small cell lung cancer. J Thorac Oncol 7 (2012), 115–121.
12. Couraud, S., Vaca-Paniagua, F., Villar, S., et al. Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: a proof-of-concept study from BioCAST/IFCT-1002. Clin Cancer Res 20 (2014), 4613–4624.
13. Douillard, J.Y., Ostoros, G., Cobo, M., et al. Gefitinib treatment in EGFR mutated Caucasian NSCLC: circulating-free tumor DNA as a surrogate for determination of EGFR status. J Thorac Oncol 9 (2014), 1345–1353.
14. Brevet, M., Johnson, M.L., Azzoli, C.G., Ladanyi, M., Detection of EGFR mutations in plasma DNA from lung cancer patients by mass spectrometry genotyping is predictive of tumor EGFR status and response to EGFR inhibitors. Lung Cancer 73 (2011), 96–102.
15. Liu, Y., Liu, B., Li, X.Y., et al. A comparison of ARMS and direct sequencing for EGFR mutation analysis and tyrosine kinase inhibitors treatment prediction in body fluid samples of non-small-cell lung cancer patients. J Exp Clin Cancer Res, 30, 2011, 111.
16. Zhu, G., Ye, X., Dong, Z., et al. Highly Sensitive droplet digital PCR method for detection of EGFR-activating mutations in plasma cell-free DNA from patients with advanced non-small cell lung cancer. J Mol Diagn 17 (2015), 265–272.
17. Jing, C.W., Wang, Z., Cao, H.X., Ma, R., Wu, J.Z., High resolution melting analysis for epidermal growth factor receptor mutations in formalin-fixed paraffin-embedded tissue and plasma free DNA from non-small cell lung cancer patients. Asian Pac J Cancer Prev 14 (2014), 6619–6623.
18. Kimura, H., Kasahara, K., Kawaishi, M., et al. Detection of epidermal growth factor receptor mutations in serum as a predictor of the response to gefitinib in patients with non-small-cell lung cancer. Clin Cancer Res 12 (2006), 3915–3921.
19. Oxnard, G.R., Thress, K.S., Alden, R.S., et al. Association between plasma genotyping and outcomes of treatment with osimertinib (AZD9291) in advanced non-small-cell lung cancer. J Clin Oncol 34 (2016), 3375–3382.
20. Ortiz-Cuaran, S., Scheffler, M., Plenker, D., et al. Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors. Clin Cancer Res 22 (2016), 4837–4847.
21. Douillard, J.Y., Ostoros, G., Cobo, M., et al. First-line gefitinib in Caucasian EGFR mutation-positive NSCLC patients: a phase-IV, open-label, single-arm study. Br J Cancer 110 (2014), 55–62.
22. Yam, I., Lam, D.C., Chan, K., et al. EGFR array: uses in the detection of plasma EGFR mutations in non-small cell lung cancer patients. J Thorac Oncol 7 (2012), 1131–1140.
23. Kosaka, T., Yatabe, Y., Endoh, H., Kuwano, H., Takahashi, T., Mitsudomi, T., Mutations of the epidermal growth factor receptor gene in lung cancer: biological and clinical implications. Cancer Res 64 (2004), 8919–8923.
24. Shigematsu, H., Lin, L., Takahashi, T., et al. Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst 97 (2005), 339–346.
25. Bai, H., Wang, Z., Chen, K., et al. Influence of chemotherapy on EGFR mutation status among patients with non-small-cell lung cancer. J Clin Oncol 30 (2012), 3077–3083.
26. Fukuoka, M., Wu, Y.L., Thongprasert, S., et al. Biomarker analyses and final overall survival results from a phase III, randomized, open-label, first-line study of gefitinib versus carboplatin/paclitaxel in clinically selected patients with advanced non-small-cell lung cancer in Asia (IPASS). J Clin Oncol 29 (2011), 2866–2874.
27. Rosell, R., Carcereny, E., Gervais, R., et al. Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. Lancet Oncol 13 (2012), 239–246.
28. Scagliotti, G.V., Parikh, P., von Pawel, J., et al. Phase III study comparing cisplatin plus gemcitabine with cisplatin plus pemetrexed in chemotherapy-naive patients with advanced-stage non-small-cell lung cancer. J Clin Oncol 26 (2008), 3543–3551.
29. Schiller, J.H., Harrington, D., Belani, C.P., et al. Comparison of four chemotherapy regimens for advanced non-small-cell lung cancer. N Engl J Med 346 (2002), 92–98.
30. Yung, T.K., Chan, K.C., Mok, T.S., Tong, J., To, K.F., Lo, Y.M., Single-molecule detection of epidermal growth factor receptor mutations in plasma by microfluidics digital PCR in non-small cell lung cancer patients. Clin Cancer Res 15 (2009), 2076–2084.
31. Wang, Z., Chen, R., Wang, S., et al. Quantification and dynamic monitoring of EGFR T790M in plasma cell-free DNA by digital PCR for prognosis of EGFR-TKI treatment in advanced NSCLC. PLoS One, 9, 2014, e110780.
32. Day, E., Dear, P.H., McCaughan, F., Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine. Methods 59 (2013), 101–107.