Molecular profiling of lung carcinoma: Identifying clinically useful tumor markers for diagnosis and prognosis

Expert Review of Molecular Diagnostics

Volumn 7, Issue 1, 2007, Pages 77-86

  Dacic, Sanja ^a  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

Diagnosis; Lung cancer; Molecular markers; Prognosis

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; GEFITINIB; PROTEIN TYROSINE KINASE INHIBITOR; TUMOR MARKER;

CANCER DIAGNOSIS; CANCER GROWTH; CANCER SURVIVAL; CARCINOGENESIS; CHROMOSOME 17P; CHROMOSOME 1P; CHROMOSOME 3P; CHROMOSOME 9P; CLINICAL PRACTICE; EPIGENETICS; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; LUNG ADENOCARCINOMA; LUNG CARCINOMA; LUNG NON SMALL CELL CANCER; MOLECULAR BIOLOGY; MORPHOLOGY; NEUROENDOCRINE TUMOR; ONCOGENE RAS; PROGNOSIS; PROTEOMICS; REVIEW; SQUAMOUS CELL CARCINOMA;

CARCINOMA, NON-SMALL-CELL LUNG; CARCINOMA, SMALL CELL; CARCINOMA, SQUAMOUS CELL; CHROMOSOME MAPPING; GENE EXPRESSION PROFILING; GENES, RAS; HUMANS; LUNG NEOPLASMS; MULTIGENE FAMILY; PROGNOSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 33846283081     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.7.1.77     Document Type: Review

References (79)

1. Wistuba II B, Ehrens CM, ilchgrub S et al. Sequential molecular abnormalities are involved in the multistage development of squamous cell lung carcinoma. Oncogene 18(3), 643-650 (1999).
2. Wistuba, II, Lam S, Behrens C et al. Molecular damage in the bronchial epithelium of current and former smokers. J. Natl Cancer Inst. 89(18), 1366-1373 (1997).
3. Miller RR. Alveolar atypical hyperplasia in association with primary pulmonary adenocarcinoma: a clinicopathological study of 10 cases. Thorax 48(6), 679-680 (1993).
4. Ullmann R, Bongiovanni M, Halbwedl I et al. Is high-grade adenomatous hyperplasia an early bronchioloalveolar adenocarcinoma? J. Pathol. 201(3), 371-376 (2003).
5. Kitamura H, Kameda Y, Ito T, Hayashi H. Atypical adenomatous hyperplasia of the lung. Implications for the pathogenesis of peripheral lung adenocarcinoma. Am J. Clin. Pathol. 111(5), 610-622 (1999).
6. Vazquez MF, Flieder DB. Small peripheral glandular lesions detected by screening CT for lung cancer. A diagnostic dilemma for the pathologist. Radiol. Clin. North Am. 38(3), 579-589 (2000).
7. Chapman AD, Ken KM. The association between atypical adenomatous hyperplasia and primary lung cancer. Br. J. Cancer 83(5), 632-636 (2000).
8. Wistuba II, Berry J, Behrens C et al. Molecular changes in the bronchial epithelium of patients with small cell lung cancer. Clin. Cancer Res. 6(7), 2604-2610 (2000).
9. Garnis C, Campbell J, Davies JJ et al. Involvement of multiple developmental genes on chromosome 1p in lung tumorigenesis. Hum. Mol. Genet. 14(4), 475-482 (2005).
10. Henderson LJ, Coe BP, Lee EH et al. Genomic and gene expression profiling of minute alterations of chromosome arm 1p in small-cell lung carcinoma cells. Br. J. Cancer 92(8), 1553-1560 (2005).
11. Zochbauer-Muller S, Wistuba, II, Minna JD, Gazdar AF. Fragile histidine triad (FHIT) gene abnormalities in lung cancer. Clin. Lung Cancer 2(2), 141-145 (2000).
12. Braga E, Senchenko V, Bazov I et al. Critical tumor-suppressor gene regions on chromosome 3P in major human epithelial malignancies: allelotyping and quantitative real-time PCR. Int. J. Cancer 100(5), 534-541 (2002).
13. Wistuba II, Behrens C, Virmani AK et al. High resolution chromosome 3p allelotyping of human lung cancer and preneoplastic/preinvasive bronchial epithelium reveals multiple, discontinuous sites of 3p allele loss and three regions of frequent breakpoints. Cancer Res. 60(7), 1949-1960 (2000).
14. Chmara M, Wozniak A, Ochman K et al. Loss of heterozygosity at chromosomes 3p and 17p in primary non-small cell lung cancer. AntiCancer Res. 24(6), 4259-4263 (2004).
15. Iijima H, Tomizawa Y, Dobashi K et al. Allelic losses on chromosome 3p are accumulated in relation to morphological changes of lung adenocarcinoma. Br. J. Cancer 91(6), 1143-1148 (2004).
16. Geradts J, Fong KM, Zimmerrnan PV, Minna JD. Loss of Fhit expression in non-small-cell lung cancer: correlation with molecular genetic abnormalities and clinicopathological features. Br. J. Cancer 82(6), 1191-1197 (2000).
17. Croce CM, Sozzi G, Huebner K. Role of FHIT in human cancer. J. Clin. Oncol. 17(5), 1618-1624 (1999).
18. Sard L, Accornero P, Tornielli S et al. The tumor-suppressor gene FHIT is involved in the regulation of apoptosis and in cell cycle control. Proc. Natl Acad. Sci. USA 96(15), 8489-8492 (1999).
19. Agathanggelou A, Honorio S, Macartney DP et al. Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. Oncogene 20(12), 1509-1518 (2001).
20. Hogg RP, Honorio S, Martinez A et al. Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma. Eur. J. Cancer 38(12), 1585-1592 (2002).
21. Ortiz-Vega S, Khokhlatchev A, Nedwidek M et al. The putative tumor suppressor RASSF1A homodimerizes and heterodimerizes with the Ras-GTP binding protein Nore1. Oncogene 21(9), 1381-1390 (2002).
22. Dammann R, Li C, Yoon JH et al. Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3. Eur. J. Cancer 25(3), 315-319 (2000).
23. Kim DH, Kim JS, Ji YI et al. Hypermethylation of RASSF1A promoter is associated with the age at starting smoking and a poor prognosis in primary nonsmall-cell lung cancer. Cancer Res. 63(13), 3743-3746 (2003).
24. Tomizawa Y, Kohno T, Kondo H et al. Clinicopathological significance of epigenetic inactivation of RASSF1A at 3p21.3 in stage I lung adenocarcinoma Clin. Cancer Res. 8(7), 2362-2368 (2002).
25. INK4A inactivation in non-small cell lung cancer cell lines. Cancer Res. 55(24), 6200-6209 (1995).
26. (INK4a) is an early event in lung cancer and a potential biomarker for early diagnosis. Proc. Natl Acad. Sci. USA 95(20), 11891-11896 (1998).
27. Seike M, Gemma A, Hosoya Y et al. Increase in the frequency of p16INK4 gene inactivation by hypermethylation in lung cancer during the process of metastasis and its relation to the status of p53. Clin. Cancer Res. 6(11), 4307-4313 (2000).
28. Belinsky SA, Palmisano WA, Gilliland FD et al. Aberrant promoter methylation in bronchial epithelium and sputum from current and former smokers. Cancer Res. 62(8), 2370-2377 (2002).
29. INK4a gene promoter region in preinvasive bronchial lesions: a prospective study in high-risk patients without invasive cancer. Int. J. Cancer 100(2), 189-193 (2002).
30. Palmisano WA, Divine KK, Saccomanno G et al. Predicting lung cancer by detecting aberrant promoter methylation in sputum. Cancer Res. 60(21), 5954-5958 (2000).
31. Topaloglu O, Hoque MO, Tokumaru Y et al. Detection of promoter hypermethylation of multiple genes in the tumor and bronchoalveolar lavage of patients with lung cancer. Clin. Cancer Res. 10(7), 2284-2288 (2004).
32. Gazzeri S, Brambilla E, Caron de Fromentel C et al. p53 genetic abnormalities and myc activation in human lung carcinoma. Int. J. Cancer 58(1), 24-32 (1994).
33. Lane DP. Cancer p53, guardian of the genome. Nature 358(6381), 15-16 (1992).
34. Levine AJ. p53, the cellular gatekeeper for growth and division. Cell 88(3), 323-331 (1997).
35. D'Amico TA, Massey M, Herndon JE 2nd, Moore MB, Harpole DH Jr. Abiologic risk model for stage I lung cancer: immunohistochemical analysis of 408 patients with the use of ten molecular markers. J. Thorac. Cardiovasc. Surg. 117(4), 736-743 (1999).
36. Ahrendt SA, Hu Y, Buta M et al. p53 mutations and survival in stage I non-small-cell lung cancer: results of a prospective study. J. Natl Cancer Inst. 95(13), 961-970 (2003).
37. Schiller JH, Adak S, Feins RH et al. Lack of prognostic significance of p53 and K-ras mutations in primary resected non-small-cell lung cancer on E4592: a Laboratory Ancillary Study on an Eastern Cooperative Oncology Group Prospective Randomized Trial of Postoperative Adjuvant Therapy. J. Clin. Oncol. 19(2), 448-457 (2001).
38. Scagliotti G, Novello S. Adjuvant chemotherapy after complete resection for early stage NSCLC. Lung Cancer 42(Suppl. 1), S47-S51 (2003).
39. Moodie SA, Willumsen BM, Weber MJ, Wolfman A. Complexes of Ras GTP with Raf-1 and mitogen-activated protein kinase kinase. Science 260(5114), 1658-1661 (1993).
40. Rodenhuis S, Slebos RJ. The ras oncogenes in human lung cancer. Am. Rev. Respir. Dis. 142(6 Pt 2), S27-S30 (1990).
41. Westra WH, Slebos RJ, Offerhaus GJ et al. K-ras oncogene activation in lung adenocarcinomas from former smokers. Evidence that K-ras mutations are an early and irreversible event in the development of adenocarcinoma of the lung. Cancer 72(2), 432-438 (1993).
42. Nelson HH, Christiani DC, Mark EJ et al. Implications and prognostic value of K-ras mutation for early-stage lung cancer in women. J. Natl Cancer Inst. 91(23), 2032-2038 (1999).
43. Tsuchiya E, Furuta R, Wada N et al. High K-ras mutation rates in goblet-cell-type adenocarcinomas of the lungs. J. Cancer Res. Clin. Oncol. 121(9-10), 577-581 (1995).
44. Yoshida Y, Shibata T, Kokubu A et al. Mutations of the epidermal growth factor receptor gene in atypical adenomatous hyperplasia and bronchioloalveolar carcinoma of the lung. Lung Cancer 50(1), 1-8 (2005).
45. Mao L, Hruban RH, Boyle JO, Tockman M, Sidransky D. Detection of oncogene mutations in sputum precedes diagnosis of lung cancer. Cancer Res. 54(7), 1634-1637 (1994).
46. Ronai Z, Yabubovskaya MS, Zhang E, Belitsky GA. K-ras mutation in sputum of patients with or without lung cancer. J. Cell. Biochem. Suppl. 25, 172-176 (1996).
47. Ahrendt SA, Chow JT, Xu LH et al. Molecular detection of tumor cells in bronchoalveolar lavage fluid from patients with early stage lung cancer. J. Natl Cancer Inst. 91(4), 332-339 (1999).
48. Nakajima E, Hirano T, Konaka C et al. K-ras mutation in sputum of primary lung cancer patients does not always reflect that of cancerous cells. Int. J. Oncol. 18(1), 105-110 (2001).
49. (INK4A) alterations in sputum of NSCLC patients and in heavy asymptomatic chronic smokers. Lung Cancer 44(1), 23-32 (2004).
50. Nakamura H, Kawasaki N, Taguchi M, Kabasawa K. Survival impact of epidermal growth factor receptor overexpression in patients with non-small cell lung cancer: a meta-analysis. Thorax 61(2), 140-145 (2006).
51. Suzuki S, Dobashi Y, Sakurai H et al. Protein overexpression and gene amplification of epidermal growth factor receptor in nonsmall cell lung carcinomas. An immunohistochemical and fluorescence in situ hybridization study. Cancer 103(6), 1265-1273 (2005).
52. Tsao MS, Sakurada A, Cutz JC et al. Erlotinib in lung cancer - molecular and clinical predictors of outcome. N. Eng. J. Med. 353(2), 133-144 (2005).
53. Hirsch ER, Varella-Garcia M, Bunn PA Jr. et al. Epidermal growth factor receptor in non-small-cell lung carcinomas: correlation between gene copy number and protein expression and impact on prognosis. J. Clin. Oncol. 21(20), 3798-3807 (2003).
54. Lynch TJ, Bell DW, Sordella R et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350(21), 2129-2139 (2004).
55. Paez JG, Janne PA, Lee JC et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304(5676), 1497-1500 (2004).
56. Nagahara H, Mimori K, Ohta M et al. Somatic mutations of epidermal growth factor receptor in colorectal carcinoma. Clin. Cancer Res. 11(4), 1368-1371 (2005).
57. Ogino S, Meyerhardt JA, Cantor M et al. Molecular alterations in tumors and response to combination chemotherapy with gefitinib for advanced colorectal cancer. Clin. Cancer Res. 11(18), 6650-6656 (2005).
58. Lee JW, Soung YH, Kim SY et al. Somatic mutations of EGFR gene in squamous cell carcinoma of the head and neck. Clin. Cancer Res. 11(8), 2879-2882 (2005).
59. Kosaka T, Yatabe Y, Endoh H et al. Mutations of the epidermal growth factor receptor gene in lung cancer: biological and clinical implications. Cancer Res. 64(24), 8919-8923 (2004).
60. Shigematsu H, Gazdar AF. Somatic mutations of epidermal growth factor receptor signaling pathway in lung cancers. Int. J. Cancer 118(2), 257-262 (2006).
61. Liu W, Innocenti F, Chen P et al. Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism. Clin. Cancer Res. 9(3), 1009-1012 (2003).
62. Liu W, Innocenti F, Wu MH et al. A functional common polymorphism in a Sp1 recognition site of the epidermal growth factor receptor gene promoter. Cancer Res. 65(1), 46-53 (2005).
63. Mitsudomi T, Kosaka T, Endoh H et al. Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. J. Clin. Oncol. 23(11), 2513-2520 (2005).
64. Fukuoka M, Yano S, Giaccone G et al. Multi-institutional randomised Phase II trial of gefitinib for previously treated patients with advanced nonsmall-cell lung cancer (The IDEAL 1 Trial) [corrected]. J. Clin. Oncol. 21(12), 2237-2246 (2003).
65. Cella D, Herbst RS, Lynch TJ et al. Clinically meaningful improvement in symptoms and quality of life for patients with nonsmall-cell lung cancer receiving gefitinib in a randomized controlled trial. J. Clin. Oncol. 23(13), 2946-2954 (2005).
66. Kris MG, Natale RB, Herbst RS et al. Efficacy of gefitinib, an inhibitor of the epidermal growth factor receptor tyrosine kinase, in symptomatic patients with non-small cell lung cancer: a randomized trial. JAMA 290(16), 2149-2158 (2003).
67. Kobayashi S, Boggon TJ, Dayaram T et al. EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 352(8), 786-792 (2005).
68. Cappuzzo F, Hirsch FR, Rossi E et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J. Natl Cancer Inst. 97(9), 643-655 (2005).
69. Cappuzzo F, Magrini E, Ceresoli GL et al. Akt phosphorylation and gefitinib efficacy in patients with advanced nonsmall-cell lung cancer. J. Natl Cancer Inst., 96(15), 1133-1141 (2004).
70. Shigematsu H, Takahashi T, Nomura M et al. Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res. 65(5), 1642-1646 (2005).
71. He P, Varticovski L, Bowman ED et al. Identification of carboxypeptidase E and γ-glutamyl hydrolase as biomarkers for pulmonary neuroendocrine tumors by cDNA microarray Hum. Pathol. 35(10), 1196-1209 (2004).
72. Tomida S, Koshikawa K, Yatabe Y et al. Gene expression-based, individualized outcome prediction for surgically treated lung cancer patients. Oncogene 23(31), 5360-5370 (2004).
73. Garber ME, Troyanskaya OG, Schluens K et al. Diversity of gene expression in adenocarcinoma of the lung. Proc. Natl Acad. Sci. USA 98(24), 13784-13789 (2001).
74. Bhattacharjee A, Richards WG, Staunton J et al. Classification of human lung carcinomas by mRNA expression profiling reveals distinct adenocarcinoma subclasses. Proc. Natl Acad. Sci. USA 98(24), 13790-13795 (2001).
75. Beer DG, Kardia SL, Huang CC et al. Gene-expression profiles predict survival of patients with lung adenocarcinoma Nat. Med. 8(8), 816-824 (2002).
76. Endoh H, Tomida S, Yatabe Y et al. Prognostic model of pulmonary adenocarcinoma by expression profiling of eight genes as determined by quantitative real-time reverse transcriptase polymerase chain reaction J. Clin. Oncol. 22(5), 811-819 (2004).
77. Yanagisawa K, Shyr Y, Xu BJ et al. Proteomic patterns of tumour subsets in nonsmall-cell lung cancer. Lancet 362(9382), 433-439 (2003).
78. Campa MJ, Wang MZ, Howard B, Fitzgerald MC, Patz EF, Jr. Protein expression profiling identifies macrophage migration inhibitory factor and cyclophilin-A as potential molecular targets in non-small cell lung cancer. Cancer Res. 63(7), 1652-1656 (2003).
79. Howard BA, Zheng Z, Campa MJ et al. Translating biomarkers into clinical practice: prognostic implications of cyclophilin A and macrophage migratory inhibitory factor identified from protein expression profiles in nonsmall-cell lung cancer. Lung Cancer 46(3), 313-323 (2004).