Korean J Anat.  2005 Feb;38(1):55-61.

Analysis of Microsatellite Instability and Loss of Heterozygosity in Sporadic Keratoacanthoma

Affiliations
  • 1Department of Plastic and Reconstructive Surgery, Keimyung University School of Medicine, Korea.
  • 2Department of Anatomy, Institute for Medical Genetics, Keimyung University School of Medicine, Hanvit Institute for Medical Genetics, Korea. dkkimmd@kmu.ac.kr

Abstract

Tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC)and from a subset of patients with the related Muir-Torre syndrome exhibit a type of a genetic instability, known as microsatellite instability (MIS), which results from mutations that inactivate DNA mismatch repair genes. Keratoacanthomas resemble squamous cell carcinoma but after a period of rapid growth over a few months they involute completely. The detection of MIS in a keratoacanthoma from a patient with Muir-Torre syndrome suggested that defective mismatch repair genes may play a role in the pathogenesis of these neoplasmas. In order to elucidate the significance of both MIS and loss of heterozygosity (LOH)in the pathogenesis of sporadic keratoacanthomas, the presents of MIS and LOH at 11 microsatellite markers (D2S286, D2S367, D3S1317, D5S346, D9S16, D9S171, D10S89, D10S185, D11S904, D17S261, and D17S520) were evaluated in randomly selected sporadic keratoacanthomas. MIS and LOH were found only in 1 of 10 cases at D17S261 and D10S185, respectively. In conclusion, the low frequency of MIS and LOH detected in this study suggests that neither MIS nor LOH appear to be significant in the induction of sporadic keratoacanthomas.

Keyword

Keratoacanthoma; Microsatellite instability; Loss of heterozygosity

MeSH Terms

Carcinoma, Squamous Cell
Colorectal Neoplasms
DNA Mismatch Repair
Humans
Keratoacanthoma*
Loss of Heterozygosity*
Microsatellite Instability*
Microsatellite Repeats*
Muir-Torre Syndrome
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