Relationship between mutations in DNA sequences loci coding pre-miRNAs and genes related to biogenesis of sncRNAs with miRNA expression in endometrial carcinoma tissues

Endometrial cancer (EC) is the most common and lethal gynaecological cancer type in Europe and in North America. Frequently EC arises more in the corpus proper and manifests as round, polypoid expansile masses but it may also originate in the lower uterine segment or spread in endometrium with necrosis and hemorrhage. The analysis was performed using a custom panel containing all DNA sequences loci coding pre-miRNAs and genes related to biogenesis and regulation of sncRNAs in normal and tumor tissues extracted from 6 unrelated patients with endometrial carcinoma. The identified variations were correlated with mature miRNAs differentially expressed in the same normal and tumor endometrial tissues. The comparative analysis confirmed the high degree of cellular and genetic intratumoral heterogeneity with a temporal and spatial miRNA expression distribution in association with genomic variants identified. The classification of specific DNA mutations, onto the loci identified, should be suitable to characterize possible instability genome regions and helpful classification of tumors to ameliorate the clinical management of patients affected by endometrial carcinoma.