Genetic alterations in esophageal cancer and their relevance to etiology and pathogenesis: A review

Montesano, Ruggero; Hollstein, Monica; Hainaut, Pierre

doi:10.1002/(sici)1097-0215(19960621)69:3<225::aid-ijc13>3.0.co;2-6

Cited by 257 publications

(161 citation statements)

References 76 publications

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“…These changes include gene mutations and their frequently associated genomic losses of tumor suppressor genes including p53 (17p13.1 locus) and p16 (9p21 locus). [14][15][16][17][18][19][20] In addition, frequent gains of chromosomes 6, 7, 11, and 12 have been previously reported in adenocarcinomas and adjacent metaplastic epithelium from esophagectomy specimens. 4,21,22 By using endoscopic brushing cytology specimens, we evaluated the ability of FISH to detect molecular genetic changes previously reported to be associated with the malignant transformation in Barrett's esophagus.…”

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Chromosomal gains and genomic loss of p53 and p16 genes in Barrett's esophagus detected by fluorescence in situ hybridization of cytology specimens

et al. 2004

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Endoscopic brush cytology is a promising surveillance technique for Barrett's esophagus. Ancillary markers are sought to increase the sensitivity of cytology and allow identification of patients at increased risk for disease progression. To determine if there are specific genetic changes in Barrett's esophagus with associated high-grade dysplasia/intramucosal adenocarcinoma compared to those without dysplasia, we performed fluorescence in situ hybridization (FISH) on cytologic specimens using probes to chromosomes and genomic regions previously described as altered in this disease. We studied archival brush cytology slides from 40 Barrett's esophagus patients: 21 with biopsy-proven high-grade dysplasia/carcinoma and 19 with no dysplasia and a minimum 5 years of negative follow-up. Centromeric enumeration probes (CEP) for chromosomes 6, 7, 11, and 12, and locus-specific probes (LSI) for 9p21 (p16 gene), and 17p13.1 (p53 gene) loci along with their corresponding CEP (9 and 17, respectively) were used in this study. A positive FISH result was defined as the presence of cells with 42 CEP signals or with a loss of the LSI signals relative to their corresponding CEP. p53 locus loss and/or aneusomy of chromosomes 6, 7, 11, and 12 abnormalities could be detected by FISH in routinely processed endoscopic brush cytology specimens from 95% of biopsy-positive cases with a specificity of 100%. Interestingly, all five cases with cytologic changes classified as indefinite for dysplasia from patients with a positive biopsy showed changes by FISH. Loss of the p16 locus was seen commonly in patients both with and without dysplasia/carcinoma. Selected biomarkers from this study merit further investigation to determine their potential to detect genetic changes in patients with Barrett's esophagus prior to the development of high-grade dysplasia.

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Chromosomal gains and genomic loss of p53 and p16 genes in Barrett's esophagus detected by fluorescence in situ hybridization of cytology specimens

et al. 2004

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“…The 5-year survival rate is below 10%. 4 In northern China (Lin Xian), where the highest incidence rate of esophageal cancer in the world is found, about 90% of esophageal cancers are SCCs. Epidemiologic studies revealed that, different from adenocarcinomas that developed from Barrett's esophagus, SCCs were more related to dietary habits, tobacco smoking and alcohol drinking.…”

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confidence: 99%

“…Familial aggregation was also found in SCC, which suggested that genetic alterations play an important role in tumorigenesis of the esophagus. [1][2][3][4] High frequency of LOH has been found on chromosomes 3, 7 and 9. 4 -6 To date, no susceptibility genes for esophageal cancer have been identified.…”

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confidence: 99%

“…Mutations in p53 and p16 and overexpression of cyclin D1 and EGFR have been found in SCC. 4 Using commercially available microarray membranes, a set of known genes differentially expressed in SCC has been identified in our lab as well as elsewhere. [7][8][9][10][11][12] These include overexpression of CDC25B, matrix metalloproteinases, Notch1, Fra-1, Neogenin, CASK, Id-1, etc.…”

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A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma

Zhang

Wang

Lu³

et al. 2002

Intl Journal of Cancer

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To isolate genes with different expression levels in human esophageal SCC, SSH and reverse Northern were performed between cancer tissue and its normal counterpart. Among the differentially expressed genes identified, we report here cDNA corresponding to a 0.88 kb mRNA (NMES1), whose expression was observed in all 36 adjacent normal esophageal mucosae, while 31 (86%) matched cancer tissues showed a marked reduction or complete lack of its expression. Sequence analysis of its full-length cDNA revealed a gene encoding a predicted polypeptide of 9 kDa. Northern blot showed that NMES1 was distributed mainly in the alimentary tract. The gene was mapped to 15q21.1 by screening the GenBridge 4 RH panel. Immunohistochemistry confirmed the downregulation of NMES1 in esophageal SCC at the protein level and showed that it is a nuclear protein. In situ hybridization revealed its different expression during mouse embryonic development, especially in bone, brain, stomach and intestine. The negative correlation of NMES1 expression with esophageal oncogenesis suggests its suppressive role in tumorigenesis of the esophagus, while the precise function of NMES1 still needs further investigation.

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“…2 The development of novel diagnostic or therapeutic strategies requires an in-depth understanding of the molecular mechanisms involved in the complex multistep process of esophageal tumorigenesis. 3 In search of novel molecular targets for esophageal cancer using differential display as described previously, 4 we report for the first time to our knowledge that ␤-mannosidase is overexpressed in esophageal squamous cell carcinoma (ESCC).…”

Section: Dear Sirmentioning

confidence: 98%