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Allelotype study of esophageal carcinoma

T Aoki1, T Mori, X Du

  • 1Department of Biochemistry, Cancer Institute, Tokyo, Japan.

Genes, Chromosomes & Cancer
|July 1, 1994
PubMed
Summary

Genetic analysis of esophageal cancer reveals frequent loss of heterozygosity (LOH) on multiple chromosomes, suggesting new tumor suppressor genes. LOH on 19q correlates with lymph node metastasis, and 17q loss is more common in females.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Esophageal cancer, particularly squamous cell carcinoma, has complex genetic underpinnings.
  • Identifying genetic alterations is crucial for understanding cancer development and progression.

Purpose of the Study:

  • To investigate genetic features of esophageal squamous cell carcinoma.
  • To identify chromosomal regions and potential tumor suppressor genes involved in esophageal tumorigenesis.

Main Methods:

  • Examined 93 esophageal squamous cell carcinomas for loss of heterozygosity (LOH).
  • Utilized 41 restriction fragment length polymorphism (RFLP) markers across all autosomal chromosomes.
  • Analyzed correlations between LOH and clinicopathological parameters, including lymph node metastasis and patient gender.

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  • Screened for mutations in the APC gene on chromosome 5q.

    • Main Results:

    • High frequencies of LOH were observed on chromosomal arms 3p, 3q, 5q, 9p, 9q, 10p, 13q, 17p, 17q, 18q, 19q, and 21q.
    • Significant correlation found between LOH on 19q and regional lymph node metastases.
    • LOH on 17q was significantly more frequent in female patients (P = 0.0009).
    • No APC gene alterations were detected, despite frequent allelic loss at the APC locus on 5q.

    Conclusions:

    • Multiple putative tumor suppressor genes are likely involved in esophageal cancer development and progression.
    • LOH on 19q may serve as a marker for lymph node metastasis.
    • The genetic basis for LOH on 5q in esophageal cancer may involve a gene other than APC.