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Query: UMLS:C0546837 (esophageal cancer)
 8,907 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of the literature is done about the epidemiology and aetiology of esophageal cancer. Esophageal cancer is a relatively uncommon neoplasm in Western countries with a very poor prognosis. In industrialized countries alcohol and tobacco are the major risk factors. Nutritional factors play also an important role in the aetiology of esophageal cancer, particularly a diet rich in cereal but poor in fresh fruit and vegetables, accounts for some of the geographic differences. Several predisposing disorders for esophageal cancer are known and include Barrett's esophagus, achalasia, chronic strictures due to corrosive substances, tylosis, coeliac disease, and the Plummer-Vinson syndrome. The clinical manifestations are also discussed.
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PMID:Epidemiology and clinical aspects of esophageal cancer. 166 45

The incidence pattern of oesophageal cancer varies across the world with roughly a 500-fold difference in rates (truncated) between the highest and lowest areas. The incidence rate of this disease is rising in many countries, especially in males. Although ethnicity is a strong indicator of risk of this disease, no specific genetic factor except the occurrence of this cancer among the members of families with tylosis has been identified. The frequency of oesophageal cancer varies among the native and immigrant populations in different countries. Oesophageal cancer was found to be strongly associated with the consumption of alcohol and tobacco, especially in combination. A low socioeconomic level and poor diet, particularly deficiencies of vitamins A, C, and riboflavin, are other characteristics of the regions of highest incidence. Physical damage of the oesophagus caused by ingesting hard foods and/or hot liquids could be another factor. Intensive research in high-risk regions failed to reveal the presence of nitrosocompounds except at a very low level or other known carcinogens. The mutagenicity of pickled vegetables commonly consumed in the high-risk regions of China and high frequency of oesophageal cancer among chickens in the same regions suggest the existence of "common" carcinogens. It seems probable that in Iran an initiating carcinogenic factor may be the custom of eating opium dross, which has been shown to be mutagenic, as well as consumption of contaminated bread with extraneous seeds containing a large quantity of silica fibres, which is a strong stimulant of growth.
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PMID:Factors associated with cancer of the oesophagus: an overview. 329 43

More than one form of 'simple' hyperkeratosis palmaris et plantaris (tylosis) probably exists. Two unrelated patients showing hyperkeratosis of relatively late onset have been found who developed esophageal carcinoma, while previously reported families with dominantly inherited esophageal cancer and with esophageal stricture, also showed late onset of hyperkeratosis. In contrast the more usual families with onset of hyperkeratosis in the first six months of life show no association with esophageal or other disease.
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PMID:Genetic heterogeneity in hyperkeratosis palmaris et plantaris. 428 32

In geographic areas where there is a high risk of esophageal cancer, analysis of cells obtained from the esophagus has been used effectively to detect early lesions. This has been demonstrated on a large scale in studies from China. Using abrasive balloon cytology techniques, 75% of the cancers detected were early lesions, where the 5-year survival after resection was in the range of 90%. Endoscopic followup studies indicate that dysplastic changes in the esophageal mucosa are a common precursor to malignancy. In many cases, the time course from dysplasia to carcinoma in situ to early invasive cancer may take place over many years, allowing a reasonable amount of time for screening. In low-incidence areas, such as the United States, most esophageal cancers are related to the excessive use of tobacco and alcohol. These factors are too common and the incidence of the disease too low, however, to justify screening on this basis. There are smaller groups at higher risk where selective screening by endoscopy with cytology and biopsy is recommended, usually every 1 to 3 years. These include patients with longstanding achalasia, lye strictures, and Plummer- Vinson syndrome. Patients with cancers of the head and neck region and patients with celiac disease may also be considered to be at increased risk. Tylosis is a rare inherited disease with a very high risk of esophageal cancer. There is an increased incidence of adenocarcinoma of the esophagus with Barrett's epithelium, and once identified such patients should be kept under endoscopic surveillance. The finding of severe dysplasia in any of these groups would indicate a shorter screening interval. Most patients with symptoms referable to the esophagus are first tested by barium esophagram. If negative, with persistent symptoms or if a suspicious lesion is identified, endoscopy with cytology and biopsy is recommended. Staging of the cancer is based on the size of the cancer both longitudinally and circumferentially and the presence of extraesophageal spread. At the present time, CT is the best noninvasive method for judging the extent of the cancer. Performance and nutritional status are also determinants of prognosis and should be considered in planning treatment.
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PMID:Screening diagnosis and staging of esophageal cancer. 672 90

Genetic mapping studies suggest that a small interval on human chromosome distal 17q24-proximal 17q25 harbors genes involved in sporadic breast and ovarian tumorigenesis and in the autosomal dominant disorders hereditary neuralgic amyotrophy and tylosis with esophageal cancer. Prior to this study, isolated genomic clones and markers were assigned to this interval but integrated physical maps were not available. We improved resolution by isolating 52 additional clones and developing 24 additional markers. Genomic clones spanning distal 17q24-proximal 17q25 were organized into a contig with two gaps that encompassed 14 existing genetic markers, 8 known genes (GALR2, AANAT, ENVL, SFRS2, SEC14L, DNAH17, API4, and TK1), and 11 previously identified expressed sequence tags. This integrated map provides a foundation for identifying additional candidate genes for the disorders mapped to this interval.
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PMID:An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci. 1019 Oct 81

Focal nonepidermolytic palmoplantar keratoderma (NEPPK), or tylosis, is an autosomal, dominantly inherited disorder of the skin that manifests as focal thickening of the palmar and plantar surfaces. In three families studied, the skin disorder cosegregates with esophageal cancer and oral lesions. New haplotype analysis, presented here, places the tylosis esophageal cancer (TOC) locus between D17S1839 and D17S785. Envoplakin (EVPL) is a protein component of desmosomes and the cornified envelope that is expressed in epidermal and esophageal keratinocytes and has been localized to the TOC region. Mutation analysis of EVPL in the three affected families failed to show tylosis-specific mutations, and haplotype analysis of three intragenic sequence polymorphisms of the EVPL gene placed it proximal to D17S1839. Confirmation of the exclusion of EVPL as the TOC gene by location was obtained by integration of the genetic and physical mapping data using radiation hybrid, YAC, BAC, and PAC clones. This new physical map will allow further identification of candidate genes underlying NEPPK associated with esophageal cancer, which may also be implicated in the development of sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.
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PMID:Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. 1040 35

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy mapped to a 4-cM interval on chromosome 17q25 between the short tandem repeat (STR) markers D17S1603 and D17S802. Chromosome 17q25 in general and the 4-cM HNA region in particular are also implicated in the pathogenesis of a number of tumors (tylosis with esophageal cancer, sporadic breast and ovarian tumors) and harbor a psoriasis susceptibility locus. Initial attempts to construct a yeast artificial chromosome contig failed. Therefore, we have now constructed a complete P1 artificial chromosome (PAC) and bacterial artificial chromosome (BAC) contig of the region flanked by the STR markers D17S1603 and D17S802. The contig contains 22 PAC and 64 BAC clones and covers a physical distance of approximately 1. 5 Mb. A total of 83 sequence-tagged site (STS) markers (10 known STSs and STRs, 56 STSs generated from clone end-fragments, 12 expressed sequence tags, and 5 known genes) were mapped on the contig, resulting in an extremely dense physical map with approximately 1 STS per 20 kb. This sequence-ready PAC and BAC contig will be pivotal for the positional cloning of the HNA gene as well as other disease genes mapping to this region.
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PMID:A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes. 1061 Jul 18

Tylosis (focal non-epidermolytic palmoplantar keratoderma; NEPPK) is associated with esophageal cancer in three families, two of which contain six or seven generations. The causative locus, the tylosis esophageal cancer (TOC) gene, has been localized to a small region on chromosome 17q25. Recent loss of heterozygosity (LOH) studies have indicated a role for the TOC gene in sporadic squamous cell esophageal cancer and Barrett's adenocarcinoma. We have now integrated genetic and physical mapping data from the TOC region, based on microsatellite markers and radiation hybrid, yeast (YAC), bacterial (BAC) and P1 artificial chromosomal (PAC) clones, and formed a partial minimal contig of one non-chimeric YAC (330 kb) and one PAC. Twenty-three candidate genes, including envoplakin (EVPL), were mapped against this contig, but only one was shown to be located within the minimal region. This physical map will allow further characterization of the region and identification of a gene implicated in both familial and sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.
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PMID:The tylosis esophageal cancer (TOC) locus: more than just a familial cancer gene. 1063 7

Human cancers derived from breast, esophageal, or ovarian tissues frequently show allelic losses on chromosome band 17q25. Moreover, a locus responsible for hereditary focal nonepidermolytic palmoplantar keratoderma, a condition associated with esophageal cancer (TOC; tylosis with oesophageal cancer), has been mapped to the same band. During efforts to sequence, by shotgun methods, a 1-Mb target region that we had defined as the DNA segment harboring the putative tumor suppressor gene(s) involved in these events, we identified a novel cDNA. The full-length cDNA is 2495bp long and is expressed predominantly in skeletal muscle, heart, kidney, and placenta. The predicted product, a 627-amino-acid protein, exhibited significant sequence homology to the canine 68-kd subunit of the signal recognition particle that has been implicated in the transport of secreted and membrane proteins to the endoplasmic reticulum for proper processing. We confirmed the location of this gene at chromosome 17q25.1 by radiation-hybrid mapping and by fluorescence in situ hybridization.
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PMID:Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle. 1128 15

The association of tylosis with esophageal cancer has been extensively reported but association with gastric cancer is rare. We report a 55-year-old man with familial tylosis and carcinoma of the stomach for which radical gastrectomy was done. Repeat endoscopy 3 years later is normal.
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PMID:Carcinoma of stomach in a patient with familial tylosis. 1254 74


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