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Abnormalities of chromosome 17 in oesophageal cancer
  1. Revendran Moodley1,
  2. Anunathan Reddi2,
  3. Runjan Chetty3,
  4. Richard Naidoo1
  1. 1Pfizer Molecular Biology Research Facility, Nelson R Mandela School of Medicine, University of KwaZulu Natal, Durban, South Africa
  2. 2Department of Cardiothoracic Surgery, Nelson R Mandela School of Medicine, University of KwaZulu Natal, Durban, South Africa
  3. 3Department of Pathology, University Health Network/University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to:
    Professor Richard Naidoo
    Pfizer Molecular Biology Research Facility, Doris Duke Medical Research Institute, Nelson R Mandela School of Medicine, Faculty of Health Science, University of KwaZulu Natal, Private Bag 7, Congella 4013, Durban, South Africa; Naidoor{at}


Background: Oesophageal cancer is the most common malignancy encountered in South African males, especially in the Eastern Cape and surrounding region of South Africa. There are a number of risk factors and predisposing conditions that have been implicated in the aetiology of the disease. The tylosis oesophageal cancer (TOC) gene, localised to a small region on chromosome 17q25, has been shown to be associated with oesophageal squamous cell carcinoma.

Aim: To investigate loss of heterozygosity (LOH) and microsatellite instability (MSI) in the region of the TOC locus.

Methods: In 74 oesophagectomy specimens for squamous cell carcinoma, microsatellite PCR was performed using five fluorescently labelled TOC markers. The PCR products were analysed and the data correlated with clinicopathological findings.

Results: LOH ranged from 25% to 60%. LOH for the individual markers was as follows: D17S1839, 25%; D17S1864, 36%; D17S1817, 38%; D17S785, 47.8%; and D17S579, 60%. MSI ranged from 4.1% to 6.8% for the five loci in the 17q region. MSI was 4.1% for the markers D17S579, D17S785 and D17S1817. Marker D17S1864 showed MSI to occur in 4 cases (5.4%) and marker D17S1839 in 5 cases (6.8%).

Conclusion: No significant relationship between genetic and clinical parameters was observed; however, aberrations in poorly differentiated tumours were high for markers D17S579 and D17S1864 (25% and 37%, respectively), indicating that these markers may have an underlying role in the molecular pathogenesis of oesophageal squamous cell carcinoma. In addition, 63% of patients who died showed LOH for the markers D17S579, D17S1864 and D17S1817.

  • LOH, loss of heterozygosity
  • MSI, microsatellite instability
  • TOC, tylosis oesophageal cancer
  • oesophageal squamous cancer
  • TOC gene
  • LOH
  • microsatellite instability
  • fluorescence-based technology

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  • Published Online First 17 October 2006

  • Funding: This work was funded by grants from the South African Medical Research Council, Cancer Association of South Africa, and the University of Natal Research Fund.

  • Competing interests: None declared.