| Objective:To study the mutation of Exon 5 and Exon8 of PTEN and microsatellite instability in the malignant transformation of endometriosis, and investigate the molecular genetic mechanism in the malignancy of endometriosis.Methods:26 cases of endometriosis associated ovarian cancers (EAOC),7 cases of atypical hyperplasia endometriosis of ovary and 25 cases of typical endometriosis tissues were collected from endometriosis in affiliated Hospital and Qingdao Municipal Hospital. PCR-SSCP silver staining was used to analyze 5 loci of microsatellite including Bat25,Bat26,D2S123,D5S346 and D17S250. Mutations of PTEN Exon5 and Exon8 were detected by PCR-SSCP and ABI sequencing.Result:Eight PTEN mutations were detected in twenty-six EAOC, and the percentages of PTEN mutation in EAOC was 30.76%。In seven aEMs cases, one case of mutation were found, and the mutation rate was14.29%. And two mutation were detected in twenty-five EMT and the rate was 8%. Meanwhile, the incidence rate of MSI were 46.15%(12/26),28.67%(2/7) and 0%(0/25). Among twelve cases of EAOC in which MSI were detected, six PTEN mutation were found. In EAOC cases, the mutation rate of PTEN and the incidence of MSI are significantly higher than those in aEMS cases and those in EMT cases, and interestingly, PTEN-mutaion rate could be proportionate to MSI incidence.Conclusion:Mutation of PTEN gene and Microsatellite Instability are highly associated with the malignant transformation of endometriosis. Mutation of PTEN has positive relationship with microsatellite instability in the malignancy of Endometriosis. |
