MLH1 promoter hypermethylation in uterine carcinosarcoma rarely coexists with TP53 mutation.

摘要: Introduction Carcinosarcoma (CS) is an infrequent neoplasm composed of a carcinomatous and sarcomatous element. Its molecular pathogenesis poorly understood. In this study, we investigated the disturbances in immunohistochemical expression p53 mismatch repair (MMR) proteins, as well their background. Material methods The study group consisted 20 uterine CSs. We analysed morphology hMLH1, hPMS2, hMSH2, MSH6, presence mutations TP53 promoter methylation hMLH1. Loss hMLH1 PMS2 was found 3/20 tumours. All cases were positive for hMSH2 hMSH6. mutation detected 8/19 tumours (42.1%), whereas MLH1 hypermethylation 4/19 (21%), one case with synchronous aberrations (5%). Agreement between results genetic moderate (k = 0.615, p< 0.01) strong 0.826, 0.01). Results conclusions demonstrated CS, leading to loss immunostaining. Concomitant are infrequent. It likely that CS may develop two independent pathways association either chromosomal or microsatellite instability.