Authors: Vanda Repiská, Helena Gbelcová and Vladimír Šišovský
Endometrial cancer is the most common type of uterine cancer and occupies the fourth place among all cancers in the developed countries. This study evaluates an association between the morphological appearance of endometrial hyperplasia, endometrioid carcinoma and serous carcinoma, and the degree of PTEN alterations. A total of 47 endometrial biopsies of Slovak women were included in present study. Formalin-fixed and paraffin-embedded tissue samples with complex hyperplasia (5), atypical complex hyperplasia (7), endometrioid carcinoma G1 (20) and G3 (5) and serous carcinoma (10) were evaluated for the presence of mutations in coding regions of PTEN gene, the most frequently mutated tumor suppressor gene in endometrial carcinoma. The 67% of the detected mutations were clustered in exon 5 and 8. Of the 49 mutations detected in 33 cases, 22 were frameshifts and 27 were nonsense, missense or silent mutations. Some specimens harbored more than one mutation. This genetic evaluation could be relevant component useful in biomedical research as well as in clinical practice.