J Korean Assoc Oral Maxillofac Surg.  2012 Apr;38(2):121-126. 10.5125/jkaoms.2012.38.2.121.

Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

• Murano A
• Ono K
• Koike H
• Endo Y
• Shimada K
• Kawasaki K
• Nomura H
• Shiiba M
• Uzawa K
• Tanzawa H

• KMID: 2189713
• DOI: http://doi.org/10.5125/jkaoms.2012.38.2.121

Abstract

Aberrations on the short arm of chromosome 8 (8p) are frequently observed in several human cancers. In this study, 20 squamous cell carcinoma (SCC) specimens from the tongue were examined in order to evaluate the role of 8p in SCC of the tongue. Microsatellite analysis using 14 markers demonstrated two commonly deleted regions (CDRs) on 8p. Reverse transcription-polymerase chain reaction (RT-PCR) revealed frequent down-regulation of the FEZ1 gene, mapped to 8p22, and frequent over-expression of the cathepsin B gene, mapped to 8p-21-22. These results suggested that genetic aberrations are involved in the development of SCC of the tongue. However, no significant relationship was observed to be established between the genetic alterations and clinicopathological features. Thus, further investigation is necessary in order to clarify the clinical role of 8p in carcinoma of the tongue.

Keyword

Loss of heterozygosity; Tongue carcinoma; FEZ1 gene; Cathepsin B gene

MeSH Terms

Arm
Carcinoma, Squamous Cell
Cathepsin B
Chromosomes, Human, Pair 8
Down-Regulation
Humans
Loss of Heterozygosity
Microsatellite Repeats
Tongue
Cathepsin B

Figure

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  Fig. 1 Change of genes on chromosome 8 (8p) and gene expression of FEZ1 and cathepsin B. A. Typical examples of microsatellite analysis are shown. The number, N, T, and the bottom symbol indicate a case number, normal tissue, tumor tissue, and a microsatellite marker, respectively. The left picture shows a typical example where no allelic segregation occurred, not analyzable (not informative, NI). The middle picture shows a representative example where loss of heterozygosity was observed (loss of heterozygosity, LOH), and the solid arrow indicates loss of one allele. The right picture shows a typical example indicating gene instability (microsatellite instability, MSI). B. Expression analysis of FEZ1 gene (reverse transcription-polymerase chain reaction [RT-PCR]). (GAPDH: glyceraldehyde 3-phosphate dehydrogenase). The expression level of the FEZ1 gene showed no change in case 7, disappeared in case 15, and decreased in case 9. C. Expression analysis of cathepsin B gene (RT-PCR). The expression level was enhanced in every case.

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  Fig. 2 Deletion map of chromosome 8p. A deletion map is shown, based on genetic abnormalities in the 8p region obtained by microsatellite analysis. A high frequency of loss of heterozygosity was observed in D8S258 and D8S87 regions of the microsatellite marker (54.5% and 50.0%, respectively); each was regarded as a common deletion region.

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  Fig. 3 Comparison of mRNA expression level between FEZ1 and cathepsin B genes. mRNA expression levels of FEZ1 and cathepsin B genes in tumor tissue (T) were compared with those in normal tissue (N). The expression level of the FEZ1 gene significantly decreased in tumor tissue, whereas that of the cathepsin B gene was significantly enhanced.

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