Esophageal squamous cell carcinoma (ESCC): Advance in genomics and molecular genetics

Diseases of the Esophagus

Volumn 28, Issue 1, 2015, Pages 84-89

  Chen, J ^a,a,c   Kwong, D L ^a   Cao, T ^a   Hu, Q ^a   Zhang, L ^a   Ming, X ^a   Fu, L ^a,b   Guan, X ^a,b  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b SUN YAT SEN UNIVERSITY CANCER CENTER   (China)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Esophageal cancer; MicroRNA; Proteomics; Transcriptomics

Indexed keywords

ALPHA ACTININ 4; CATHEPSIN D; CELLULAR RETINOL BINDING PROTEIN 1; CHAPERONIN 60; DEATH ASSOCIATED PROTEIN KINASE; FRAGILE HISTIDINE TRIAD PROTEIN; GALECTIN 7; GLUCOSE REGULATED PROTEIN 78; LAMININ RECEPTOR; MANGANESE SUPEROXIDE DISMUTASE; MICRORNA; MICRORNA 141; MICRORNA 21; PERIPLAKIN; PROTEIN MLH1; PROTEIN P14; PROTEIN P15; PROTEIN P16; RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1A; TRANSCRIPTION FACTOR RUNX3; TRANSCRIPTION FACTOR YAP1; TUMOR PROTEIN; UNTRANSLATED RNA;

CANCER GENETICS; CANCER GROWTH; CANCER STAGING; CARCINOGENESIS; EPIGENETICS; ESOPHAGEAL SQUAMOUS CELL CARCINOMA; GENE EXPRESSION PROFILING; GENE MUTATION; GENE REGULATORY NETWORK; GENETIC ASSOCIATION; GENOMICS; HEREDITY; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEOMICS; REVIEW; TRANSCRIPTOMICS; TUMOR GENE; ESOPHAGUS TUMOR; GENETIC EPIGENESIS; GENETICS; SQUAMOUS CELL CARCINOMA;

CARCINOMA, SQUAMOUS CELL; EPIGENESIS, GENETIC; ESOPHAGEAL NEOPLASMS; GENE EXPRESSION PROFILING; GENE REGULATORY NETWORKS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MICRORNAS; PROTEOMICS;

EID: 84921604867     PISSN: 11208694     EISSN: 14422050     Source Type: Journal    
DOI: 10.1111/dote.12088     Document Type: Review

References (83)

1. Lam A K. Molecular biology of esophageal squamous cell carcinoma. Crit Rev Oncol Hematol 2000; 33: 71-90.
2. Parkin D M, Bray F I, Devesa S S. Cancer burden in the year 2000. The global picture. Eur J Cancer 2001; 37: S4-66.
3. Ke L. Mortality and incidence trends from esophagus cancer in selected geographic areas of China circa 1970-90. Int J Cancer 2002; 102: 271-274.
4. Siassi F, Ghadirian P. Riboflavin deficiency and esophageal cancer: a case control-household study in the Caspian Littoral of Iran. Cancer Detect Prev 2005; 29: 464-469.
5. Yang C X, Wang H Y, Wang Z M etal. Risk factors for esophageal cancer: a case-control study in South-western China. Asian Pac J Cancer Prev 2005; 6: 48-53.
6. Sun G, Wang S, Hu X etal. Fumonisin B1 contamination of home-grown corn in high-risk areas for esophageal and liver cancer in China. Food Addit Contam 2007; 24: 181-185.
7. Morita M, Kumashiro R, Kubo N etal. Alcohol drinking, cigarette smoking, and the development of squamous cell carcinoma of the esophagus: epidemiology, clinical findings, and prevention. Int J Clin Oncol 2010; 15: 126-134.
8. Messmann H. Squamous cell cancer of the oesophagus. Best Pract Res Clin Gastroenterol 2001; 15: 249-265.
9. Brown L M, Hoover R, Silverman D etal. Excess incidence of squamous cell esophageal cancer among US Black men: role of social class and other risk factors. Am J Epidemiol 2001; 153: 114-122.
10. Abbaszadegan M R, Raziee H R, Ghafarzadegan K, Shakeri M T, Afsharnezhad S, Ghavamnasiry M R. Aberrant p16 methylation, a possible epigenetic risk factor in familial esophageal squamous cell carcinoma. Int J Gastrointest Cancer 2005; 36: 47-54.
11. Yang H H, Hu N, Taylor P R, Lee M P. Whole genome-wide association study using affymetrix SNP chip: a two-stage sequential selection method to identify genes that increase the risk of developing complex diseases. Methods Mol Med 2008; 141: 23-35.
12. Cui R, Kamatani Y, Takahashi A etal. Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology 2009; 137: 1768-1775.
13. Wang L D, Zhou F Y, Li X M etal. Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat Genet 2010; 42: 759-763.
14. Abnet C C, Freedman N D, Hu N etal. A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nat Genet 2010; 42: 764-767.
15. Wu C, Hu Z, He Z etal. Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat Genet 2011; 43: 679-684.
16. Ma H, Wang L E, Liu Z, Sturgis E M, Wei Q. Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck. BMC Cancer 2011; 11: 258.
17. Rihn B H, Vidal S, Nemurat C etal. From transcriptomics to bibliomics. Med Sci Monit 2003; 9 (8): MT89-95.
18. Ma S, Bao J Y, Kwan P S etal. Identification of PTK6, via RNA sequencing analysis, as a suppressor of esophageal squamous cell carcinoma. Gastroenterology 2012; 143: 675-686.
19. van Baal J W, Milana F, Rygiel A M etal. A comparative analysis by SAGE of gene expression profiles of esophageal adenocarcinoma and esophageal squamous cell carcinoma. Cell Oncol 2008; 30: 63-75.
20. Matros A, Kaspar S, Witzel K, Mock H P. Recent progress in liquid chromatography-based separation and label-free quantitative plant proteomics. Phytochemistry 2011; 72: 963-974.
21. Li F, Guan Y, Chen Z. Proteomics in nasopharyngeal carcinoma. Cell Mol Life Sci 2008; 65: 1007-1012.
22. Qi Y, Chiu J F, Wang L, Kwong D L, He Q Y. Comparative proteomic analysis of esophageal squamous cell carcinoma. Proteomics 2005; 5: 2960-2971.
23. Qi Y J, He Q Y, Ma Y F etal. Proteomic identification of malignant transformation-related proteins in esophageal squamous cell carcinoma. J Cell Biochem 2008; 104: 1625-1635.
24. Du X L, Hu H, Lin D C etal. Proteomic profiling of proteins dysregulted in Chinese esophageal squamous cell carcinoma. J Mol Med 2007; 85: 863-875.
25. Zhu X, Ding M, Yu M L, Feng M X, Tan L J, Zhao F K. Identification of galectin-7 as a potential biomarker for esophageal squamous cell carcinoma by proteomic analysis. BMC Cancer 2010; 10: 290.
26. Fu L, Qin Y R, Xie D etal. Identification of alpha-actinin 4 and 67kDa laminin receptor as stage-specific markers in esophageal cancer via proteomic approaches. Cancer 2007; 110: 2672-2681.
27. Zhang J, Wang K, Zhang J, Liu S S, Dai L, Zhang J Y. Using proteomic approach to identify tumor-associated proteins as biomarkers in human esophageal squamous cell carcinoma. J Proteome Res 2011; 10: 2863-2872.
28. Liu Z, Feng J G, Tuersun A etal. Proteomic identification of differentially-expressed proteins in esophageal cancer in three ethnic groups in Xinjiang. Mol Biol Rep 2011; 38: 3261-3269.
29. Hatakeyama H, Kondo T, Fujii K etal. Protein clusters associated with carcinogenesis, histological differentiation and nodal metastasis in esophageal cancer. Proteomics 2006; 6: 6300-6316.
30. Fujita Y, Nakanishi T, Hiramatsu M etal. Proteomics-based approach identifying autoantibody against peroxiredoxin VI as a novel serum marker in esophageal squamous cell carcinoma. Clin Cancer Res 2006; 12: 6415-6420.
31. Dong J, Zeng B H, Xu L H etal. Anti-CDC25B autoantibody predicts poor prognosis in patients with advanced esophageal squamous cell carcinoma. J Transl Med 2010; 8: 81.
32. Liu W L, Zhang G, Wang J Y etal. Proteomics-based identification of autoantibody against CDC25B as a novel serum marker in esophageal squamous cell carcinoma. Biochem Biophys Res Commun 2008; 375: 440-445.
33. Wen J, Zheng B, Hu Y etal. Comparative proteomic analysis of the esophageal squamous carcinoma cell line EC109 and its multi-drug resistant subline EC109/CDDP. Int J Oncol 2010; 36: 265-274.
34. Langer R, Ott K, Specht K etal. Protein expression profiling in esophageal adenocarcinoma patients indicates association of heat-shock protein 27 expression and chemotherapy response. Clin Cancer Res 2008; 14: 8279-8287.
35. Ong S E, Mann M. Mass spectrometry-based proteomics turns quantitative. Nat Chem Biol 2005; 1: 252-262.
36. Ong S E, Mann M. A practical recipe for stable isotope labeling by amino acids in cell culture (SILAC). Nat Protoc 2006; 1: 2650-2660.
37. Kashyap M K, Harsha H C, Renuse S etal. SILAC-based quantitative proteomic approach to identify potential biomarkers from the esophageal squamous cell carcinoma secretome. Cancer Biol Ther 2010; 10: 796-810.
38. Pawar H, Kashyap M K, Sahasrabuddhe N A etal. Quantitative tissue proteomics of esophageal squamous cell carcinoma for novel biomarker discovery. Cancer Biol Ther 2011; 12: 510-522.
39. Dai L P, Wang Y P, Wu X B, Wang K J, Lu Q J. [Study on the association of cytochrome P450 polymorphisms and the risk of esophageal cancer: a meta-analysis.]. Zhonghua Liu Xing Bing Xue Za Zhi 2009; 30: 1198-1202.
40. Dai L, Wang K, Zhang J, Lv Q, Wu X, Wang Y. XRCC1 gene polymorphisms and esophageal squamous cell carcinoma risk in Chinese population: a meta-analysis of case-control studies. Int J Cancer 2009; 125: 1102-1109.
41. Zhang G, Mai R, Huang B. ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: evidence from a meta-analysis. PLoS ONE 2010; 5: e13679.
42. Islami F, Fedirko V, Tramacere I etal. Alcohol drinking and esophageal squamous cell carcinoma with focus on light-drinkers and never-smokers: a systematic review and meta-analysis. Int J Cancer 2011; 129: 2473-2484.
43. Wu X B, Dai L P, Wang Y P, Wang K J, Zhang J Y. [DNA repair gene xeroderma pigmentosum group D 751 polymorphism and the risk on esophageal cancer: a meta-analysis]. Zhonghua Liu Xing Bing Xue Za Zhi 2009; 30: 281-285.
44. Wang B, Wang D, Zhang D etal. Pro variant of TP53 Arg72Pro contributes to esophageal squamous cell carcinoma risk: evidence from a meta-analysis. Eur J Cancer Prev 2010; 19: 299-307.
45. Zhang G H, Mai R Q, Huang B. Meta-analysis of ADH1B and ALDH2 polymorphisms and esophageal cancer risk in China. World J Gastroenterol 2010; 16: 6020-6025.
46. Yu W W, Guo Y M, Zhu M etal. Clinicopathological and prognostic significance of EGFR over-expression in esophageal squamous cell carcinoma: a meta-analysis. Hepatogastroenterology 2011; 58: 426-431.
47. Li L, Zhao J, Wu Z, Wang G, Chen G. Meta-analysis: clinicopathological and prognostic significance of cyclooxygenase-2 expression on oesophageal squamous cell carcinoma. Aliment Pharmacol Ther 2009; 30: 589-596.
48. Feng W X, Wang K J, He B, Li X. Method to analyze gene promoter methylation inhibition effect on binding of transcription factors. Prog Biochem Biophys 2011; 38: 177-184.
49. Fan S C, Zhang X G. Progress of bioinformatics study in DNA methylation. Prog Biochem Biophys 2009; 36: 143-150.
50. Jiang L H, Li Y X, Liu Q. Reconstruction of gene regulatory networks by integrating ChIP-chip, knock out and expression data. Prog Biochem Biophys 2010; 37: 996-1005.
51. Jiang Z W, Liu X G, Zhou Z J. The Regulation of histone modifications. Prog Biochem Biophys 2009; 36: 1252-1259.
52. Yan L M, Wu J Y, Yu X H, Xu J O, Ou H S. Role of intronic MicroRNA in the regulation of endothelial nitric oxide synthase expression and the proliferation of endothelial cells. Prog Biochem Biophys 2010; 37: 747-753.
53. Shibata Y, Haruki N, Kuwabara Y etal. Chfr expression is downregulated by CpG island hypermethylation in esophageal cancer. Carcinogenesis 2002; 23: 1695-1699.
54. Xing E P, Nie Y, Song Y L etal. Mechanisms of inactivation of p14(ARF), p15(INK4b), and p16(INK4a) genes in human esophageal squamous cell carcinoma. Clin Cancer Res 1999; 5: 2704-2713.
55. Ishii T, Murakami J, Notohara K etal. Oesophageal squamous cell carcinoma may develop within a background of accumulating DNA methylation in normal and dysplastic mucosa. Gut 2007; 56: 13-19.
56. Kuroki T, Trapasso F, Yendamuri S etal. Promoter hypermethylation of RASSF1A in esophageal squamous cell carcinoma. Clin Cancer Res 2003; 9: 1441-1445.
57. Li B, Wang B, Niu L J, Jiang L, Qiu C C. Hypermethylation of multiple tumor-related genes associated with DNMT3b up-regulation served as a biomarker for early diagnosis of esophageal squamous cell carcinoma. Epigenetics 2011; 6: 307-316.
58. Long C, Yin B, Lu Q etal. Promoter hypermethylation of the RUNX3 gene in esophageal squamous cell carcinoma. Cancer Invest 2007; 25: 685-690.
59. Tonomoto Y, Tachibana M, Dhar D K etal. Differential expression of RUNX genes in human esophageal squamous cell carcinoma: downregulation of RUNX3 worsens patient prognosis. Oncology 2007; 73: 346-356.
60. Yu J, Tao Q, Cheung K F etal. Epigenetic identification of ubiquitin carboxyl-terminal hydrolase L1 as a functional tumor suppressor and biomarker for hepatocellular carcinoma and other digestive tumors. Hepatology 2008; 48: 508-518.
61. Mandelker D L, Yamashita K, Tokumaru Y etal. PGP9.5 promoter methylation is an independent prognostic factor for esophageal squamous cell carcinoma. Cancer Res 2005; 65: 4963-4968.
62. Cheng Y, Geng H, Cheng S H etal. KRAB zinc finger protein ZNF382 is a proapoptotic tumor suppressor that represses multiple oncogenes and is commonly silenced in multiple carcinomas. Cancer Res 2010; 70: 6516-6526.
63. Kong K L, Kwong D L, Fu L etal. Characterization of a candidate tumor suppressor gene uroplakin 1A in esophageal squamous cell carcinoma. Cancer Res 2010; 70: 8832-8841.
64. Tanaka H, Shimada Y, Harada H etal. Methylation of the 5' CpG island of the FHIT gene is closely associated with transcriptional inactivation in esophageal squamous cell carcinomas. Cancer Res 1998; 58: 3429-3434.
65. Mori M, Mimori K, Shiraishi T etal. Altered expression of FHIT in carcinoma and precarcinomatous lesions of the esophagus. Cancer Res 2000; 60: 1177-1182.
66. Lee E J, Lee B B, Kim J W etal. Aberrant methylation of Fragile Histidine Triad gene is associated with poor prognosis in early stage esophageal squamous cell carcinoma. Eur J Cancer 2006; 42: 972-980.
67. Tzao C, Hsu H S, Sun G H etal. Promoter methylation of the hMLH1 gene and protein expression of human mutL homolog 1 and human mutS homolog 2 in resected esophageal squamous cell carcinoma. J Thorac Cardiovasc Surg 2005; 130: 1371-1377.
68. Vasavi M, Kiran V, RaviShankar B, Prabhakar B, Ahuja Y R, Hasan Q. Microsatellite instability analysis and its correlation with hMLH1 repair gene hypermethylation status in esophageal pathologies including cancers. Cancer Biomark 2010; 7: 1-10.
69. Guo M Z, Ren J L, House M G, Qi Y, Brock M V, Herman J G. Accumulation of promoter methylation suggests epigenetic progression in squamous cell carcinoma of the esophagus. Clin Cancer Res 2006; 12: 4515-4522.
70. Anupam K, Tusharkant C, Gupta S D, Ranju R. Loss of disabled-2 expression is an early event in esophageal squamous tumorigenesis. World J Gastroenterol 2006; 12: 6041-6045.
71. Tanaka K, Imoto I, Inoue J etal. Frequent methylation-associated silencing of a candidate tumor-suppressor, CRABP1, in esophageal squamous-cell carcinoma. Oncogene 2007; 26: 6456-6468.
72. Cottrell S E. Molecular diagnostic applications of DNA methylation technology. Clin Biochem 2004; 37: 595-604.
73. Kristensen L S, Nielsen H M, Hansen L L. Epigenetics and cancer treatment. Eur J Pharmacol 2009; 625: 131-142.
74. Guo Y, Chen Z L, Zhang L etal. Distinctive MicroRNA profiles relating to patient survival in esophageal squamous cell carcinoma. Cancer Res 2008; 68: 26-33.
75. Hiyoshi Y, Kamohara H, Karashima R etal. MicroRNA-21 regulates the proliferation and invasion in esophageal squamous cell carcinoma. Clin Cancer Res 2009; 15: 1915-1922.
76. Mori Y, Ishiguro H, Kuwabara Y etal. MicroRNA-21 induces cell proliferation and invasion in esophageal squamous cell carcinoma. Mol Med 2009; 2: 235-239.
77. Ma W J, Lv G D, Tuersun A etal. Role of microRNA-21 and effect on PTEN in Kazakh's esophageal squamous cell carcinoma. Mol Biol Rep 2011; 38: 3253-3260.
78. Harata K, Ishiguro H, Kuwabara Y etal. MicroRNA-34b has an oncogenic role in esophageal squamous cell carcinoma. Oncol Lett 2010; 1: 685-689.
79. Chen Z L, Zhao X H, Wang J W etal. microRNA-92a promotes lymph node metastasis of human esophageal squamous cell carcinoma via e-cadherin. J Biol Chem 2011; 286: 10725-10734.
80. Zhang M X, Wang J S, Zhou S N, Tangsakar E, Zhu J X, Cai H. Microrna-518b represses migration by targeting Rap1b in esophageal squamous cell carcinoma. Ann Oncol 2011; 22: v29.
81. Liu Q, Lv G D, Qin X etal. Role of microRNA let-7 and effect to HMGA2 in esophageal squamous cell carcinoma. Mol Biol Rep 2012; 39: 1239-1246.
82. Kong K L, Kwong D L, Chan T H etal. MicroRNA-375 inhibits tumour growth and metastasis in oesophageal squamous cell carcinoma through repressing insulin-like growth factor 1 receptor. Gut 2012; 61: 33-42.
83. Imanaka Y, Tsuchiya S, Sato F, Shimada Y, Shimizu K, Tsujimoto G. MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma. J Hum Genet 2011; 56: 270-276.