Definition of a tumor suppressor gene locus on the short arm of chromosome 3 in squamous cell carcinoma of the head and neck by means of microsatellite markers

Arch Otolaryngol Head Neck Surg. 1996 May;122(5):497-501. doi: 10.1001/archotol.1996.01890170031007.


Background: Tumor suppressor genes are important in the development of head and neck cancer. Using microsatellite markers that map close to the region 3p24-pter, we determined the frequency of allele loss close to this site with a view to narrowing the search for a putative tumor suppressor gene involved in the development of squamous cell carcinoma of the head and neck, which may facilitate future positional cloning techniques.

Design: Laboratory-based project with tumor and normal specimens subjected to molecular genetic analysis. Tumor-normal tissue DNA pairs were analyzed for allelic imbalance and microsatellite instability on chromosome 3p in the region 3p24-pter by the polymerase chain reaction and microsatellite markers D3S1304, D3S656, D3S1252, D3S1293, THRB, and D3S1266.

Setting: Molecular genetics and oncology research laboratory.

Patients: Paired tumor-normal DNA samples were obtained from 46 patients with tumors of the head and neck.

Main outcome measures: Detection of loss of heterozygosity and microsatellite instability on chromosome 3 in the region 3p24-p25.1.

Results: We found loss of heterozygosity with at least one marker in 48% of informative cases and loss of heterozygosity or microsatellite instability in 57% of informative cases. The minimal region of loss was found in the region bounded by D3S656 and D31293.

Conclusion: A putative tumor suppressor gene in head and neck cancer lies between D3S656 and D3S1293 in the 3p25.1 region.

MeSH terms

  • Alleles
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / pathology
  • Carcinoma, Squamous Cell / ultrastructure
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA, Neoplasm
  • Genes, Tumor Suppressor / genetics*
  • Genetic Carrier Screening
  • Genome
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / pathology
  • Humans
  • Hypopharyngeal Neoplasms / genetics*
  • Hypopharyngeal Neoplasms / pathology
  • Hypopharynx / pathology
  • Karyotyping
  • Laryngeal Neoplasms / genetics
  • Laryngeal Neoplasms / pathology
  • Larynx / pathology
  • Microsatellite Repeats*
  • Mouth / pathology
  • Mouth Neoplasms / genetics
  • Mouth Neoplasms / pathology
  • Oropharyngeal Neoplasms / genetics
  • Oropharyngeal Neoplasms / pathology
  • Oropharynx / pathology
  • Polymerase Chain Reaction


  • DNA, Neoplasm