각질가시세포종에서의 이형접합성소실과 Microsatellite의 불안정성에 대한 분석

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.