Screening for EGFR and KRAS mutations in endobronchial ultrasound derived transbronchial needle aspirates in non-small cell lung cancer using COLD-PCR

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Santis, George ^a   Angell, Roger ^b   Nickless, Guillermina ^b   Quinn, Alison ^b   Herbert, Amanda ^b   Cane, Paul ^b   Spicer, James ^a   Breen, Ronan ^b   McLean, Emma ^b   Tobal, Khalid ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EGFR GENE; ENDOBRONCHIAL ULTRASONOGRAPHY; EXON; FEASIBILITY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; KRAS GENE; LARGE CELL CARCINOMA; LUNG ADENOCARCINOMA; LUNG NON SMALL CELL CANCER; LUNG SQUAMOUS CELL CARCINOMA; LYMPH NODE METASTASIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEUROENDOCRINE TUMOR; POLYMERASE CHAIN REACTION; TRANSBRONCHIAL ASPIRATION; ADENOCARCINOMA; BRONCHUS; ECHOGRAPHY; ENDOSCOPIC ECHOGRAPHY; GENETICS; LUNG TUMOR; MIDDLE AGED; MUTATION; NEEDLE BIOPSY; PROGNOSIS; SQUAMOUS CELL CARCINOMA; UTILIZATION REVIEW;

DNA; EGFR PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR RECEPTOR; KRAS PROTEIN, HUMAN; ONCOPROTEIN; RAS PROTEIN;

ADENOCARCINOMA; AGED; AGED, 80 AND OVER; BIOPSY, FINE-NEEDLE; BRONCHI; CARCINOMA, LARGE CELL; CARCINOMA, NON-SMALL-CELL LUNG; CARCINOMA, SQUAMOUS CELL; DNA, NEOPLASM; ENDOSONOGRAPHY; FEASIBILITY STUDIES; FEMALE; HUMANS; LUNG NEOPLASMS; LYMPHATIC METASTASIS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTO-ONCOGENE PROTEINS; RAS PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 80052892102     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025191     Document Type: Article

References (49)

1. Citri A, Yarden Y, (2006) EGF-ERBB signalling: towards the systems level. Nat Rev Mol Cell Biol 7: 505-516.
2. Hynes NE, Lane HA, (2005) ERBB receptors and cancer: the complexity of targeted inhibitors. Nat Rev Cancer 5: 341-354.
3. Putnam EA, Yen N, Gallick GE, Steck PA, Fang K, et al. (1992) Autocrine growth stimulation by transforming growth factor-alpha in human non-small cell lung cancer. Surg Oncol 1: 49-60.
4. Rusch V, Baselga J, Cordon-Cardo C, Orazem J, Zaman M, et al. (1993) Differential expression of the epidermal growth factor receptor and its ligands in primary non-small cell lung cancers and adjacent benign lung. Cancer Res 53: 2379-2385.
5. Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, et al. (2004) 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.
6. Paez JG, Janne PA, Lee JC, Tracy S, Greulich H, et al. (2004) EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304: 1497-1500.
7. Pao W, Ladanyi M, (2007) Epidermal growth factor receptor mutation testing in lung cancer: searching for the ideal method. Clin Cancer Res 13: 4954-4955.
8. Mok TS, Wu YL, Thongprasert S, Yang CH, Chu DT, et al. (2009) Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 361: 947-957.
9. Sequist LV, Martins RG, Spigel D, Grunberg SM, Spira A, et al. (2008) First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. J Clin Oncol 26: 2442-2449.
10. Tamura K, Okamoto I, Kashii T, Negoro S, Hirashima T, et al. (2008) Multicentre prospective phase II trial of gefitinib for advanced non-small cell lung cancer with epidermal growth factor receptor mutations: results of the West Japan Thoracic Oncology Group trial (WJTOG0403). Br J Cancer 98: 907-914.
11. Sharma SV, Bell DW, Settleman J, Haber DA, (2007) Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer 7: 169-181.
12. Marchetti A, Martella C, Felicioni L, Barassi F, Salvatore S, et al. (2005) EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment. J Clin Oncol 23: 857-865.
13. Park K, Goto K, (2006) A review of the benefit-risk profile of gefitinib in Asian patients with advanced non-small-cell lung cancer. Curr Med Res Opin 22: 561-573.
14. Rosell R, Moran T, Queralt C, Porta R, Cardenal F, et al. (2009) Screening for epidermal growth factor receptor mutations in lung cancer. N Engl J Med 361: 958-967.
15. Inukai M, Toyooka S, Ito S, Asano H, Ichihara S, et al. (2006) Presence of epidermal growth factor receptor gene T790M mutation as a minor clone in non-small cell lung cancer. Cancer Res 66: 7854-7858.
16. Pao W, Miller VA, Politi KA, Riely GJ, Somwar R, et al. (2005) Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med 2: e73.
17. Cortot AB, Italiano A, Burel-Vandenbos F, Martel-Planche G, Hainaut P, (2010) KRAS mutation status in primary nonsmall cell lung cancer and matched metastases. Cancer 116: 2682-2687.
18. Mao C, Qiu LX, Liao RY, Du FB, Ding H, et al. (2009) KRAS mutations and resistance to EGFR-TKIs treatment in patients with non-small cell lung cancer: A meta-analysis of 22 studies. Lung Cancer 69: 272-278.
19. Marks JL, Broderick S, Zhou Q, Chitale D, Li AR, et al. (2008) Prognostic and therapeutic implications of EGFR and KRAS mutations in resected lung adenocarcinoma. J Thorac Oncol 3: 111-116.
20. Riely GJ, Kris MG, Rosenbaum D, Marks J, Li A, et al. (2008) Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. Clin Cancer Res 14: 5731-5734.
21. Pao W, Wang TY, Riely GJ, Miller VA, Pan Q, et al. (2005) KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. PLoS Med 2: e17.
22. Li J, Wang L, Mamon H, Kulke MH, Berbeco R, et al. (2008) Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat Med 14: 579-584.
23. Li J, Makrigiorgos GM, (2009) COLD-PCR: a new platform for highly improved mutation detection in cancer and genetic testing. Biochem Soc Trans 37: 427-432.
24. Li J, Milbury CA, Li C, Makrigiorgos GM, (2009) Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma. Hum Mutat 30: 1583-1590.
25. Zuo Z, Chen SS, Chandra PK, Galbincea JM, Soape M, et al. (2009) Application of COLD-PCR for improved detection of KRAS mutations in clinical samples. Mod Pathol 22: 1023-1031.
26. Adams K, Shah PL, Edmonds L, Lim E, (2009) Test performance of endobronchial ultrasound and transbronchial needle aspiration biopsy for mediastinal staging in patients with lung cancer: systematic review and meta-analysis. Thorax 64: 757-762.
27. Annema JT, van Meerbeeck JP, Rintoul RC, Dooms C, Deschepper E, et al. (2010) Mediastinoscopy vs endosonography for mediastinal nodal staging of lung cancer: a randomized trial. JAMA 304: 2245-2252.
28. Detterbeck FC, Jantz MA, Wallace M, Vansteenkiste J, Silvestri GA, (2007) Invasive mediastinal staging of lung cancer: ACCP evidence-based clinical practice guidelines (2nd edition). Chest 132: 202S-220S.
29. Gu P, Zhao YZ, Jiang LY, Zhang W, Xin Y, et al. (2009) Endobronchial ultrasound-guided transbronchial needle aspiration for staging of lung cancer: a systematic review and meta-analysis. Eur J Cancer 45: 1389-1396.
30. Micames CG, McCrory DC, Pavey DA, Jowell PS, Gress FG, (2007) Endoscopic ultrasound-guided fine-needle aspiration for non-small cell lung cancer staging: A systematic review and metaanalysis. Chest 131: 539-548.
31. Pirker R, Herth FJ, Kerr KM, Filipits M, Taron M, et al. (2010) Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol 5: 1706-1713.
32. Cane P, Fraser S, Tobal K, Santis G, (2011) Which types of diagnostic tissue samples are adequate for EGFR testing of non small cell lung cancer? In: Jett JR, editors. 14th World Conference on Lung Cancer Amsterdam, Holland JTO pp. S568-569.
33. Marchetti A, Felicioni L, Buttitta F, (2006) Assessing EGFR mutations. N Engl J Med 354: 526-528; author reply 526-528.
34. Pao W, Ladanyi M, Miller VA, (2005) Erlotinib in lung cancer. N Engl J Med 353: 1739-1741; author reply 1739-1741.
35. Luthra R, Zuo Z, (2009) COLD-PCR finds hot application in mutation analysis. Clin Chem 55: 2077-2078.
36. Garcia-Olive I, Monso E, Andreo F, Sanz-Santos J, Taron M, et al. (2010) Endobronchial ultrasound-guided transbronchial needle aspiration for identifying EGFR mutations. Eur Respir J 35: 391-395.
37. Nakajima T, Yasufuku K, Suzuki M, Hiroshima K, Kubo R, et al. (2007) Assessment of epidermal growth factor receptor mutation by endobronchial ultrasound-guided transbronchial needle aspiration. Chest 132: 597-602.
38. Schuurbiers OC, Looijen-Salamon MG, Ligtenberg MJ, van der Heijden HF, (2010) A brief retrospective report on the feasibility of epidermal growth factor receptor and KRAS mutation analysis in transesophageal ultrasound- and endobronchial ultrasound-guided fine needle cytological aspirates. J Thorac Oncol 5: 1664-1667.
39. Molina-Vila MA, Bertran-Alamillo J, Reguart N, Taron M, Castella E, et al. (2008) A sensitive method for detecting EGFR mutations in non-small cell lung cancer samples with few tumor cells. J Thorac Oncol 3: 1224-1235.
40. Galbiati S, Brisci A, Lalatta F, Seia M, Makrigiorgos GM, et al. (2011) Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem 57: 136-138.
41. Milbury CA, Li J, Makrigiorgos GM, (2011) Ice-COLD-PCR enables rapid amplification and robust enrichment for low-abundance unknown DNA mutations. Nucleic Acids Res 39: e2.
42. Wu JY, Yu CJ, Chang YC, Yang CH, Shih JY, et al. (2011) Effectiveness of tyrosine kinase inhibitors on "uncommon" epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Clin Cancer Res 17: 3812-3821.
43. Wu JY, Wu SG, Yang CH, Gow CH, Chang YL, et al. (2008) Lung cancer with epidermal growth factor receptor exon 20 mutations is associated with poor gefitinib treatment response. Clin Cancer Res 14: 4877-4882.
44. Chen Z, Feng J, Saldivar JS, Gu D, Bockholt A, et al. (2008) EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: one-third of doublets occur at five pairs of amino acids. Oncogene 27: 4336-4343.
45. Yang TY, Tsai CR, Chen KC, Hsu KH, Lee HM, et al. (2011) Good Response to Gefitinib in a Lung Adenocarcinoma Harboring a Heterozygous Complex Mutation of L833V and H835L in Epidermal Growth Factor Receptor Gene. J Clin Oncol 29: e468-469.
46. Park S, Holmes-Tisch AJ, Cho EY, Shim YM, Kim J, et al. (2009) Discordance of molecular biomarkers associated with epidermal growth factor receptor pathway between primary tumors and lymph node metastasis in non-small cell lung cancer. J Thorac Oncol 4: 809-815.
47. Tanaka T, Matsuoka M, Sutani A, Gemma A, Maemondo M, et al. (2010) Frequency of and variables associated with the EGFR mutation and its subtypes. Int J Cancer 126: 651-655.
48. Monaco SE, Nikiforova MN, Cieply K, Teot LA, Khalbuss WE, et al. (2010) A comparison of EGFR and KRAS status in primary lung carcinoma and matched metastases. Hum Pathol 41: 94-102.
49. Rusch VW, Asamura H, Watanabe H, Giroux DJ, Rami-Porta R, et al. (2009) The IASLC lung cancer staging project: a proposal for a new international lymph node map in the forthcoming seventh edition of the TNM classification for lung cancer. J Thorac Oncol 4: 568-577.