Abstract
IntroductionMicrosatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers. The loss of MMR protein is commonly determined by immunohistochemical studies. Although the relation between microsatellite instability and urothelial carcinomas has been widely studied, its evaluation is not currently performed in the analysis of urothelial carcinomas.MethodsIn this study, the microsatellite status of 139 urothelial carcinomas was analyzed and their clinicopathological characteristics were evaluated. We identified that 10.3% (13 patients) of urothelial carcinomas had loss of MMR protein expression (9 MLH1; 5 MSH2; 2 PMS2; 2 PSH6; n = 139).ResultsResults suggest that these tumors occur more frequently in males, are more frequently located in the bladder or ureters, and present a high tumor grade with a papillary histological pattern that does not infiltrate the lamina propria or, in the case of infiltrating tumors, that grows into perivesical tissues.ConclusionsWe identified patients with the aforementioned tumor characteristics as patients with a high probability of presenting loss of MMR protein expression, and consider that only these patients should undergo further immunohistochemical and molecular techniques for proper diagnosis. Therefore, we propose that the clinicopathological characteristics found in the present study could become possible markers to determine which cases should undergo additional tests.
Highlights
Microsatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers
The microscopic study identified that the patients studied from the population of Móstoles presented in most cases a papillary histological pattern (79 patients out of 139), with a predominant exophytic growth of high tumor grade with necrosis and the presence of nucleolus in 46.1% of the cases
When assessing the frequency of mutation between patient genders, it was observed that loss of MMR protein expression was statistically more frequent in men (22.2%) compared to women (3.2%), showing a risk of loss of MMR protein expression in men with an Odd Ratio (OR) of 6963
Summary
Microsatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers. The relation between microsatellite instability and urothelial carcinomas has been widely studied, its evaluation is not currently performed in the analysis of urothelial carcinomas. The increase in cancer prevalence has been related to the aging and growth of the population and improvements in life expectancy [1]. Urothelial carcinoma is the twelfth most common cancer worldwide [2], and the fifth most common cancer in Spain [3]. The incidence of urothelial carcinoma in Spain is estimated in 21,093 people per year [3]
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