Fine deletion analysis of 1p36 chromosomal region in oral squamous cell carcinomas

J Oral Pathol Med. 2009 Jan;38(1):94-8. doi: 10.1111/j.1600-0714.2008.00666.x. Epub 2008 Mar 19.

Abstract

Background: Squamous cell carcinoma is the most common cancer type of the oral cavity and approximately 50% of the patients succumb to the disease. Unfortunately, few are known about the molecular mechanisms involving in the formation of oral squamous cell carcinoma (OSCC). Recently, it has been reported that 1p36 chromosomal region is deleted in various cancer types and is suspected to harbor various tumor suppressor genes (TSGs). However, limited studies exist on genetics alteration on 1p36 in OSCC and the responsible TSG remained unidentified.

Methods: To investigate area susceptible to harbor TSG(s) involved in OSCC on 1p36 region, paired normal and tumor tissues of 27 patients with diagnosis of OSCC have been analyzed for loss of heterozygosity (LOH) using nine microsatellite markers based on recent gene mapping.

Results: LOH was found at least in one locus in 85% of the cases (23 of 27). Interestingly, microsatellite instability was also found in 7% (two of 27) of the cases analyzed. The higher LOH frequencies were found with the markers D1S243 (25%), D1S468 (22%), D1S450 (25%), D1S228 (38%), D1S199 (28%), and D1S1676 (23%).

Conclusions: Three preferentially deleted regions have been identified in OSCC: region 1 (D1S468-D1S243), region 2 (D1S450-D1S228), and region 3 (D1S199-D1S1676). Multiple candidate TSGs, such as RIZ1, p73, UBE4B, Rap1GAP, EPHB2, and RUNX3, are located in these three areas. The data obtained in this study can be used for further functional analysis of these genes involved in OSCC carcinogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis / genetics
  • Carcinoma, Squamous Cell / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics*
  • Core Binding Factor Alpha 3 Subunit / genetics
  • DNA-Binding Proteins / genetics
  • GTPase-Activating Proteins / genetics
  • Gene Deletion*
  • Gene Frequency / genetics
  • Genes, Tumor Suppressor
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Loss of Heterozygosity / genetics
  • Microsatellite Instability
  • Microsatellite Repeats / genetics
  • Mouth Neoplasms / genetics*
  • Nuclear Proteins / genetics
  • Receptor, EphB2 / genetics
  • Transcription Factors / genetics
  • Tumor Protein p73
  • Tumor Suppressor Proteins / genetics
  • Ubiquitin-Protein Ligase Complexes / genetics
  • Ubiquitin-Protein Ligases

Substances

  • Core Binding Factor Alpha 3 Subunit
  • DNA-Binding Proteins
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • RAP1GAP protein, human
  • Runx3 protein, human
  • TP73 protein, human
  • Transcription Factors
  • Tumor Protein p73
  • Tumor Suppressor Proteins
  • Histone-Lysine N-Methyltransferase
  • PRDM2 protein, human
  • Ubiquitin-Protein Ligase Complexes
  • UBE4B protein, human
  • Ubiquitin-Protein Ligases
  • Receptor, EphB2