Correlation of PTEN Mutations with Microsatellite Instability in Endometrial Carcinoma
- VernacularTitle:子宫内膜癌中抑癌基因PTEN突变与微卫星不稳定性的相关性分析
- Author:
Yan ZHAO
;
Kuiran LIU
;
Shulan ZHANG
- Publication Type:Journal Article
- Keywords:
endometrial carcinoma;
atypical hyperplasia;
PTEN;
mutations;
DNA satellite
- From:
Journal of China Medical University
2010;(2):119-122
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the prevalence and clinicopathologic significance of the microsatellite instability(MSI),PTEN mutations and their correlations in endometrial carcinogenesis.Methods The MSI analysis was performed using five microsatellite markers in paired uterine endometrial carcinoma(UEC) and atypical endometrial hyperplasia(AH).PTEN mutations were detected by single-strand conformation polymorphism(FCR-SSCP) analysis and DNA sequencing in UEC,AH and normal epithelium(NE).Rescults There was a significant difference in the incidence of PTEN mutations among AH,UEC and NE(P<0.01).PTEN mutations changed significantly in AH-the direct precursor to UEC(P<0.01).PTEN mutations correlated significantly with the clinical stage of the UEC(P<0.05).In UEC with MSI,PTEN mutations were detected in the short coding mononucleotide repeats(A) in 2(18.2%) of the 11 carcinomas.PTEN had a substantially higher frequency of mutations in UEC with MSI compared with the frequency of mutations in UEC without MSI(P<0.05).Conclusion PTEN mutations and MSI were two of the most common genetic alterations and correlated with each other in uterine endometrioid carcinoma.PTEN mutations might be secondary to deficiencies in mismatch repair and give some explanation for the frequent presence of PTEN mutations in MSI positive UEC.
