DNA methylation biomarkers offer improved diagnostic efficiency in lung cancer

Cancer Research

Volumn 72, Issue 22, 2012, Pages 5692-5701

  Nikolaidis, Georgios ^a   Raji, Olaide Y ^a   Markopoulou, Soultana ^a,d   Gosney, John R ^a   Bryan, Julie ^a   Warburton, Chris ^b   Walshaw, Martin ^c   Sheard, John ^b   Field, John K ^a   Liloglou, Triantafillos ^a  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b UNIVERSITY HOSPITAL AINTREE   (United Kingdom)

^c LIVERPOOL HEART AND CHEST HOSPITAL   (United Kingdom)

^d ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P16; PROTEIN RASSF1; TELOMERASE REVERSE TRANSCRIPTASE; TUMOR MARKER; UNCLASSIFIED DRUG; WT1 PROTEIN;

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CANCER STAGING; CLINICAL EVALUATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA METHYLATION; FEMALE; GENETIC ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; LARGE CELL CARCINOMA; LUNG ADENOCARCINOMA; LUNG CANCER; LUNG SMALL CELL CANCER; LUNG SQUAMOUS CELL CARCINOMA; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; RASSF1 GENE; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE; SMOKING HABIT; TELOMERASE REVERSE TRANSCRIPTASE GENE; TUMOR SUPPRESSOR GENE; VALIDATION PROCESS; WT1 GENE;

AGED; AGED, 80 AND OVER; CARCINOMA, NON-SMALL-CELL LUNG; CASE-CONTROL STUDIES; DNA METHYLATION; DNA, NEOPLASM; FEMALE; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; PROMOTER REGIONS, GENETIC; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; TUMOR MARKERS, BIOLOGICAL;

EID: 84869209119     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-12-2309     Document Type: Article

References (46)

1. Jemal A, Siegel R, Xu J, Ward E. Cancer statistics, 2010. CA Cancer J Clin 2010;60:277-300.
2. Jack RH, Davies EA, Moller H. Lung cancer incidence and survival in different ethnic groups in South East England. Br J Cancer 2011;105:1049-53.
3. Mulshine JL, van Klaveren RJ. Lung cancer screening: what is the benefit and what do we do about it? Lung Cancer 2011;71:247-8.
4. Van't Westeinde SC, van Klaveren RJ. Screening and early detection of lung cancer. Cancer J 2011;17:3-10.
5. Dobler CC, Crawford AB. Bronchoscopic diagnosis of endoscopically visible lung malignancies: should cytologic examinations be performed routinely? Intern Med J 2009;39:806-11.
6. Liloglou T, Maloney P, Xinarianos G, Hulbert M, Walshaw MJ, Gosney JR, et al. Cancer-specific genomic instability in bronchial lavage: a molecular tool for lung cancer detection. Cancer Res 2001;61:1624-8.
7. Ahrendt SA, Decker PA, Alawi EA, Zhu Yr YR, Sanchez-Cespedes M, Yang SC, et al. Cigarette smoking is strongly associated with mutation of the K-ras gene in patients with primary adenocarcinoma of the lung. Cancer 2001;92:1525-30.
8. Somers VA, van Henten AM, ten Velde GP, Arends JW, Thunnissen FB. Additional value of K-ras point mutations in bronchial wash fluids for diagnosis of peripheral lung tumours. Eur Resp J 1999;13:1120-4.
9. Ahrendt SA, Chow JT, Xu LH, Yang SC, Eisenberger CF, Esteller M, et al. Molecular detection of tumor cells in bronchoalveolar lavage fluid from patients with early stage lung cancer. J Natl Cancer Inst 1999;91:332-9.
10. Schneider KU, Dietrich D, Fleischhacker M, Leschber G, Merk J, Schaper F, et al. Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors. BMC Cancer 2011;11:102.
11. de Fraipont F, Moro-Sibilot D, Michelland S, Brambilla E, Brambilla C, Favrot MC. Promoter methylation of genes in bronchial lavages: a marker for early diagnosis of primary and relapsing non-small cell lung cancer? Lung Cancer 2005;50:199-209.
12. Liloglou T, Field JK. Detection of DNA methylation changes in body fluids. Adv Genet 2010;71:177-207.
13. Baryshnikova E, Destro A, Infante MV, Cavuto S, Cariboni U, Alloisio M, et al. Molecular alterations in spontaneous sputum of cancer-free heavy smokers: results from a large screening program. Clin Cancer Res 2008;14:1913-9.
14. Hsu HS, Chen TP,WenCK, Hung CH, Chen CY, Chen JT, et al. Multiple genetic and epigenetic biomarkers for lung cancer detection in cytologically negative sputum and a nested case-control study for risk assessment. J Pathol 2007;213:412-9.
15. Grote HJ. [Aberrant promoter methylation as biomarker for molecular cytological diagnosis of lung cancer]. Verh Dtsch Ges Pathol 2006;90:216-26.
16. Liloglou T, Bediaga NG, Brown BR, Field JK, Davies MP. Epigenetic biomarkers in lung cancer. Cancer Lett 2012 Apr 27. [Epub ahead of print].
17. Dietrich D, Kneip C, Raji O, Liloglou T, Seegebarth A, Schlegel T, et al. Performance evaluation of the DNA methylation biomarker SHOX2 for the aid in diagnosis of lung cancer based on the analysis of bronchial aspirates. Int J Oncol 2012;40:825-32.
18. Field JK, Smith DL, Duffy S, Cassidy A. The Liverpool Lung Project research protocol. Int J Oncol 2005;27:1633-45.
19. Pepe MS, Etzioni R, Feng Z, Potter JD, Thompson ML, Thornquist M, et al. Phases of biomarker development for early detection of cancer. J Natl Cancer Inst 2001;93:1054-61.
20. Ehricht R, Slickers P, Goellner S, Hotzel H, Sachse K. Optimized DNA microarray assay allows detection and genotyping of single PCR-amplifiable target copies. Mol Cell Probes 2006;20:60-3.
21. Xinarianos G, McRonald FE, Risk JM, Bowers NL, Nikolaidis G, Field JK, et al. Frequent genetic and epigenetic abnormalities contribute to the deregulation of cytoglobin in non-small cell lung cancer. Hum Mol Genet 2006;15:2038-44.
22. Daskalos A, Nikolaidis G, Xinarianos G, Savvari P, Cassidy A, Zakopoulou R, et al. Hypomethylation of retrotransposable elements correlates with genomic instability in non-small cell lung cancer. Int J Cancer 2009;124:81-7.
23. Daskalos A, Logotheti S, Markopoulou S, Xinarianos G, Gosney JR, Kastania AN, et al. Global DNA hypomethylation-induced DeltaNp73 transcriptional activation in non-small cell lung cancer. Cancer Lett 2011;300:79-86.
24. Palmisano WA, Divine KK, Saccomanno G, Gilliland FD, Baylin SB, Herman JG, et al. Predicting lung cancer by detecting aberrant promoter methylation in sputum. Cancer Res 2000;60:5954-8.
25. Virmani AK, Rathi A, Zochbauer-Muller S, Sacchi N, Fukuyama Y, Bryant D, et al. Promoter methylation and silencing of the retinoic acid receptor-beta gene in lung carcinomas. J Natl Cancer Inst 2000;92:1303-7.
26. Toyooka S, Toyooka KO, Maruyama R, Virmani AK, Girard L, Miyajima K, et al. DNA methylation profiles of lung tumors. Mol Cancer Ther 2001;1:61-7.
27. Belinsky SA, Palmisano WA, Gilliland FD, Crooks LA, Divine KK, Winters SA, et al. Aberrant promoter methylation in bronchial epithelium and sputum from current and former smokers. Cancer Res 2002;62:2370-7.
28. Zochbauer-Muller S, Lam S, Toyooka S, Virmani AK, Toyooka KO, Seidl S, et al. Aberrant methylation of multiple genes in the upper aerodigestive tract epithelium of heavy smokers. Int J Cancer 2003;107:612-6.
29. Shivapurkar N, Stastny V, Suzuki M, Wistuba II, Li L, Zheng Y, et al. Application of a methylation gene panel by quantitative PCR for lung cancers. Cancer Lett 2007;247:56-71.
30. Janes H, Pepe M. The optimal ratio of cases to controls for estimating the classification accuracy of a biomarker. Biostatistics 2006;7:456-68.
31. Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet 2001;69:138- 47.
32. Calle ML, Urrea V, Vellalta G, Malats N, Steen KV. Improving strategies for detecting genetic patterns of disease susceptibility in association studies. Stat Med 2008;27:6532-46.
33. DeLong ER, DeLong DM, Clarke-Pearson DL. Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach. Biometrics 1988;44:837-45.
34. Schmidt B, Liebenberg V, Dietrich D, Schlegel T, Kneip C, Seegebarth A, et al. SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer based on bronchial aspirates. BMC Cancer 2010;10:600.
35. National Lung Screening Trial Research Team, Aberle DR, Adams AM, Berg CD, Black WC, Clapp JD, Fagerstrom RM, et al. Reduced lungcancer mortality with low-dose computed tomographic screening. N Engl J Med 2011;365:395-409.
36. Field JK, Smith RA, Aberle DR, Oudkerk M, Baldwin DR, Yankelevitz D, et al. International Association for the Study of Lung Cancer Computed Tomography Screening Workshop 2011 Report. J Thorac Oncol 2012;7:10-9.
37. Baker SG, Kramer BS, Srivastava S. Markers for early detection of cancer: statistical guidelines for nested case-control studies. BMC Med Res Methodol 2002;2:4.
38. Cancer Research UK, Diagnostic Biomarker Roadmap. [cited 2012 Sep 26]. Available from: http://www.cancerresearchuk.org/prod-consump/groups/cr-common/ @fre/@fun/documents/generalcontent/cr-027484.pdf
39. Bossuyt PM, Reitsma JB. The STARD initiative. Lancet 2003;361:71.
40. Hoque MO, Topaloglu O, Begum S, Henrique R, Rosenbaum E, Van Criekinge W, et al. Quantitative methylation-specific polymerase chain reaction gene patterns in urine sediment distinguish prostate cancer patients from control subjects. J Clin Oncol 2005;23:6569-75.
41. van der Drift M, Prinsen C, Knuiman J, Janssen J, Dekhuijzen PN, Thunnissen E. Diagnosing peripheral lung cancer: the additional value of RASSF1A methylation and KRAS mutation analyses in washings in non-diagnostic bronchoscopy. Chest 2012;141:169-75.
42. Kumar S, Mohan A, Guleria R. Biomarkers in cancer screening, research and detection: present and future: a review. Biomarkers 2006;11:385-405.
43. Manne U, Srivastava RG, Srivastava S. Recent advances in biomarkers for cancer diagnosis and treatment. Drug Discov Today 2005;10:965-76.
44. Kim H, Kwon YM, Kim JS, Lee H, Park JH, Shim YM, et al. Tumor-specific methylation in bronchial lavage for the early detection of non-small-cell lung cancer. J Clin Oncol 2004;22:2363-70.
45. Pyenson BS, Sander MS, Jiang Y, Kahn H, Mulshine JL. An actuarial analysis shows that offering lung cancer screening as an insurance benefit would save lives at relatively low cost. Health Affairs 2012;31:770-9.
46. Baldwin DR, Duffy SW, Wald NJ, Page R, Hansell DM, Field JK. UK Lung Screen (UKLS) nodule management protocol: modelling of a single screen randomised controlled trial of low-dose CT screening for lung cancer. Thorax 2011;66:308-13.