Usefulness of nanofluidic digital PCR arrays to quantify T790M mutation in EGFR-mutant lung adenocarcinoma

Cancer Genomics and Proteomics

Volumn 12, Issue 1, 2015, Pages 31-37

  Isobe, Kazutoshi ^a   Hata, Yoshinobu ^a   Tochigi, Naobumi ^b   Kaburaki, Kyohei ^a   Kobayashi, Hiroshi ^a   Makino, Takashi ^a   Otsuka, Hajime ^a   Ishida, Fumiaki ^a   Hirota, Nao ^a   Sano, Go ^a   Sugino, Keishi ^a   Sakamoto, Susumu ^a   Takai, Yujiro ^a   Shibuya, Kazutoshi ^b   Iyoda, Akira ^a   Homma, Sakae ^a  

^a TOHO UNIVERSITY   (Japan)

^b TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Digital PCR; Epidermal growth factor receptor tyrosine kinase inhibitor; Non small cell lung cancer; T790M

Indexed keywords

CELL DNA; CELL FREE DNA; EPIDERMAL GROWTH FACTOR RECEPTOR; GEFITINIB; GENOMIC DNA; PROTEIN TYROSINE KINASE INHIBITOR; UNCLASSIFIED DRUG;

AGED; ARTICLE; CANCER CHEMOTHERAPY; CANCER RESISTANCE; CANCER SURVIVAL; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; LUNG ADENOCARCINOMA; LUNG BIOPSY; MALE; NANOFLUIDIC DIGITAL POLYMERASE CHAIN REACTION; NANOFLUIDICS; PILOT STUDY; POLYMERASE CHAIN REACTION; PROGRESSION FREE SURVIVAL; RETROSPECTIVE STUDY; ADENOCARCINOMA; GENETICS; LUNG TUMOR; MUTATION; PROCEDURES;

ADENOCARCINOMA; AGED; FEMALE; HUMANS; LUNG NEOPLASMS; MALE; MUTATION; PILOT PROJECTS; POLYMERASE CHAIN REACTION; RECEPTOR, EPIDERMAL GROWTH FACTOR; RETROSPECTIVE STUDIES;

EID: 84920531595     PISSN: 11096535     EISSN: 17906245     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J and Haber DA: Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350:2129-2139, 2004.
2. Paez JG, Jänne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE and Meyerson M: EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304:1497-1500, 2004.
3. Ettinger DS, Akerley W, Bepler G, Blum MG, Chang A, Cheney RT, Chirieac LR, D'Amico TA, Demmy TL, Ganti AK, Govindan R, Grannis FW Jr, Jahan T, Jahanzeb M, Johnson DH, Kessinger A, Komaki R, Kong FM, Kris MG, Krug LM, Le QT, Lennes IT, Martins R, O'Malley J, Osarogiagbon RU, Otterson GA, Patel JD, Pisters KM, Reckamp K, Riely GJ, Rohren E, Simon GR, Swanson SJ, Wood DE and Yang SC. NCCN Non-Small Cell Lung Cancer Panel Members: Non-small cell lung cancer. J Natl Compr Canc Netw 8:740-801, 2010.
4. Azzoli CG, Temin S, Aliff T, Baker S Jr., Brahmer J, Johnson DH, Laskin JL, Masters G, Milton D, Nordquist L, Pao W, Pfister DG, Piantadosi S, Schiller JH, Smith R, Smith TJ, Strawn JR, Trent D and Giaccone G: American Society of Clinical Oncology. 2011 Focused Update of 2009 American Society of Clinical Oncology Clinical Practice Guideline Update on Chemotherapy for Stage IV Non-Small-Cell Lung Cancer. J Clin Oncol 29:3825-3831, 2011.
5. Mok TS, Wu YL, Thongprasert S, Yang CH, Chu DT, Saijo N, Sunpaweravong P, Han B, Margono B, Ichinose Y, Nishiwaki Y, Ohe Y, Yang JJ, Chewaskulyong B, Jiang H, Duffield EL, Watkins CL, Armour AA and Fukuoka M: Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 361:947-957, 2009.
6. Maemondo M, Inoue A, Kobayashi K, Sugawara S, Oizumi S, Isobe H, Gemma A, Harada M, Yoshizawa H, Kinoshita I, Fujita Y, Okinaga S, Hirano H, Yoshimori K, Harada T, Ogura T, Ando M, Miyazawa H, Tanaka T, Saijo Y, Hagiwara K, Morita S and Nukiwa T: Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N Engl J Med 362:2380-2388, 2010.
7. Mitsudomi T, Morita S, Yatabe Y, Negoro S, Okamoto I, Tsurutani J, Seto T, Satouchi M, Tada H, Hirashima T, Asami K, Katakami N, Takada M, Yoshioka H, Shibata K, Kudoh S, Shimizu E, Saito H, Toyooka S, Nakagawa K and Fukuoka M: Gefitinib versus cisplatin plus docetaxel in patients with nonsmallcell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trial. Lancet Oncol 11:121-128, 2010.
8. Zhou C, Wu YL, Chen G, Feng J, Liu XQ, Wang C, Zhang S, Wang J, Zhou S, Ren S, Lu S, Zhang L, Hu C, Hu C, Luo Y, Chen L, Ye M, Huang J, Zhi X, Zhang Y, Xiu Q, Ma J, Zhang L and You C: Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-smallcell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol 12:735-742, 2011.
9. Ohashi K, Maruvka YE, Michor F and Pao W: Epidermal growth factor receptor tyrosine kinase inhibitor-resistant disease. J Clin Oncol 31:1070-1080, 2013.
10. Kobayashi S, Boggon TJ, Dayaram T, Jänne PA, Kocher O, Meyerson M, Johnson BE, Eck MJ, Tenen DG and Halmos B: EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N Engl J Med 352:786-792, 2005.
11. Yano S, Yamada T, Takeuchi S, Tachibana K, Minami Y, Yatabe Y Mitsudomi T, Tanaka H, Kimura T, Kudoh S, Nokihara H, Ohe Y, Yokota J, Uramoto H, Yasumoto K, Kiura K, Higashiyama M, Oda M, Saito H, Yoshida J, Kondoh K and Noguchi M: Hepatocyte growth factor expression in EGFR mutant lung cancer with intrinsic and acquired resistance to tyrosine kinase inhibitors in a Japanese cohort. J Thorac Oncol 6:2011-2017, 2011.
12. Pao W, Miller VA, Politi KA, Riely GJ, Somwar R, Zakowski MF, Kris MG and Varmus H: Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med 2:e73, 2005.
13. Engelman JA, Zejnullahu K, Mitsudomi T, Song Y, Hyland C, Park JO, Lindeman N, Gale CM, Zhao X, Christensen J, Kosaka T, Holmes AJ, Rogers AM, Cappuzzo F, Mok T, Lee C, Johnson BE, Cantley LC and Jänne PA: MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science 316:1039-1043, 2007.
14. Bean J, Brennan C, Shih JY, Riely G, Viale A, Wang L, Chitale D, Motoi N, Szoke J, Broderick S, Balak M, Chang WC, Yu CJ, Gazdar A, Pass H, Rusch V, Gerald W, Huang SF, Yang PC, Miller V, Ladanyi M, Yang CH and Pao W: MET amplification occurs with or without T790M mutations in EGFR mutant lung tumors with acquired resistance to gefitinib or erlotinib. Proc Natl Acad Sci USA 104:20932-20937, 2007.
15. Sequist LV, Waltman BA, Dias-Santagata D, Digumarthy S, Turke AB, Fidias P, Bergethon K, Shaw AT, Gettinger S, Cosper AK, Akhavanfard S, Heist RS, Temel J, Christensen JG, Wain JC, Lynch TJ, Vernovsky K, Mark EJ, Lanuti M, Iafrate AJ, Mino-Kenudson M and Engelman JA: Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med 3:75ra26, 2011.
16. Rosell R, Molina MA, Costa C, Simonetti S, Gimenez-Capitan A, Bertran-Alamillo J, Mayo C, Moran T, Mendez P, Cardenal F, Isla D, Provencio M, Cobo M, Insa A, Garcia-Campelo R, Reguart N, Majem M, Viteri S, Carcereny E, Porta R, Massuti B, Queralt C, De Aguirre I, Sanchez JM, Sanchez-Ronco M, Mate JL, Ariza A, Benlloch S, Sanchez JJ, Bivona TG, Sawyers CL and Taron M: Pretreatment EGFR T790M mutation and BRCA1 mRNA expression in erlotinib-treated advanced nonsmallcell lung cancer patients with EGFR mutations. Clin Cancer Res 17:1160-1168, 2011.
17. Engelman JA, Mukohara T, Zejnullahu K, Lifshits E, Borrás AM, Gale CM, Naumov GN, Yeap BY, Jarrell E, Sun J, Tracy S, Zhao X, Heymach JV, Johnson BE, Cantley LC and Jänne PA: Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer. J Clin Invest 116:2695-2706, 2006.
18. Ogino A, Kitao H, Hirano S, Uchida A, Ishiai M, Kozuki T, Takigawa N, Takata M, Kiura K and Tanimoto M: Emergence of epidermal growth factor receptor T790M mutation during chronic exposure to gefitinib in a non small cell lung cancer cell line. Cancer Res 67:7807-7814, 2007.
19. Wang J, Ramakrishnan R, Tang Z, Fan W, Kluge A, Dowlati A, Jones RC and Ma PC: Quantifying EGFR alterations in the lung cancer genome with nanofluidic digital PCR arrays. Clin Chem 56:623-632, 2010.
20. Nagai Y, Miyazawa H, Huqun, Tanaka T, Udagawa K, Kato M, Fukuyama S, Yokote A, Kobayashi K, Kanazawa M and Hagiwara K: Genetic heterogeneity of the epidermal growth factor receptor in non-small cell lung cancer cell lines revealed by a rapid and sensitive detection system, the peptide nucleic acid-locked nucleic acid PCR clamp. Cancer Res 65:7276-7282, 2005.
21. Su KY, Chen HY, Li KC, Kuo ML, Yang JC, Chan WK, Kuo ML, Yang JC, Chan WK, Ho BC, Chang GC, Shih JY, Yu SL and Yang PC: Pretreatment epidermal growth factor receptor (EGFR) T790M mutation predicts shorter EGFR tyrosine kinase inhibitor response duration in patients with non-small-cell lung cancer. J Clin Oncol 30:433-440, 2012.
22. Costa C, Molina MA, Drozdowskyj A, Giménez-Capitán A, Bertran-Alamillo J, Karachaliou N, Gervais R, Massuti B, Wei J, Moran T, Majem M, Felip E, Carcereny E, Garcia-Campelo R, Viteri S, Taron M, Ono M, Giannikopoulos P, Bivona T and Rosell R: The impact of EGFR T790M mutations and BIM mRNA expression on outcome in patients with EGFR-mutant NSCLC treated with erlotinib or chemotherapy in the randomized phase III EURTAC trial. Clin Cancer Res 20:2001-2010, 2014.
23. Fujita Y, Suda K, Kimura H, Matsumoto K, Arao T, Nagai T, Saijo N, Yatabe Y, Mitsudomi T and Nishio K: Highly sensitive detection of EGFR T790M mutation using colony hybridization predicts favorable prognosis of patients with lung cancer harboring activating EGFR mutation. J Thorac Oncol 7:1640-1644, 2012.
24. Oxnard GR, Arcila ME, Sima CS, Riely GJ, Chmielecki J, Kris MG, Pao W, Ladanyi M and Miller VA: Acquired resistance to EGFR tyrosine kinase inhibitors in EGFR-mutant lung cancer: distinct natural history of patients with tumors harboring the T790M mutation. Clin Cancer Res 17:1616-1622, 2011.
25. Chmielecki J, Foo J, Oxnard GR, Hutchinson K, Ohashi K, Somwar R, Wang L, Amato KR, Arcila M, Sos ML, Socci ND, Viale A, De Stanchina E, Ginsberg MS, Thomas RK, Kris MG and Inoue A: Optimization of dosing for EGFR-mutant nonsmall cell lung cancer with evolutionary cancer modeling. Sci Transl Med 3:90ra59, 2011.
26. Oxnard GR, Paweletz CP, Kuang Y, Mach SL, O'Connell A, Messineo MM, Luke JJ, Butaney M, Kirschmeier P, Jackman DM and Jänne PA: Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative nextgeneration genotyping of cell-free plasma DNA. Clin Cancer Res 20:1698-1705, 2014.
27. Cross DA, Ashton SE, Ghiorghiu S, Eberlein C, Nebhan CA, Spitzler PJ, Orme JP, Finlay MR, Ward RA, Mellor MJ, Hughes G, Rahi A, Jacobs VN, Red Brewer M, Ichihara E, Sun J, Jin H, Ballard P, Al-Kadhimi K, Rowlinson R, Klinowska T, Richmond GH, Cantarini M, Kim DW, Ranson MR and Pao W: AZD9291, an irreversible EGFR TKI, overcomes T790M-mediated resistance to EGFR inhibitors in lung cancer. Cancer Discov 4:1046-1061, 2014.
28. Walter AO, Sjin RT, Haringsma HJ, Ohashi K, Sun J, Lee K, Dubrovskiy A, Labenski M, Zhu Z, Wang Z, Sheets M, St Martin T, Karp R, Van Kalken D, Chaturvedi P, Niu D, Nacht M, Petter RC, Westlin W, Lin K, Jaw-Tsai S, Raponi M, Van Dyke T, Etter J, Weaver Z, Pao W, Singh J, Simmons AD, Harding TC and Allen A: Discovery of a mutant-selective covalent inhibitor of EGFR that overcomes T790M-mediated resistance in NSCLC. Cancer Discov 3:1404-1415, 2013.