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Analytical Cellular Pathology
Volume 2015, Article ID 746856, 7 pages
http://dx.doi.org/10.1155/2015/746856
Research Article

PTEN Sequence Analysis in Endometrial Hyperplasia and Endometrial Carcinoma in Slovak Women

1Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia
2Department of Biochemistry and Microbiology, Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Technicka 5, 16628 Prague, Czech Republic
3Institute of Pathological Anatomy, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia
4MEDIREX GROUP ACADEMY n.o., Galvaniho 17/C, 82016 Bratislava, Slovakia
5Clinical Pathology Presov, Ltd., Holleho 14, 08001 Presov, Slovakia
6Department of Clinical Genetics, St. Elizabeth Cancer Institute, Heydukova 10, 812 50 Bratislava, Slovakia

Received 1 April 2015; Accepted 13 May 2015

Academic Editor: Monica Cantile

Copyright © 2015 H. Gbelcová et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Phosphatase and tensin homolog (PTEN) is a protein that acts as a tumor suppressor by dephosphorylating the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. Loss of PTEN function has been implicated in the pathogenesis of a number of different tumors, particularly endometrial carcinoma (ECa). ECa is the most common neoplasia of the female genital tract. Our study evaluates an association between the morphological appearance of endometrial hyperplasia and endometrial carcinoma and the degree of PTEN alterations. A total of 45 endometrial biopsies from Slovak women were included in present study. Formalin-fixed and paraffin-embedded tissue samples with simple hyperplasia (3), complex hyperplasia (5), atypical complex hyperplasia (7), endometrioid carcinomas G1 (20) and G3 (5), and serous carcinoma (5) were evaluated for the presence of mutations in coding regions of PTEN gene, the most frequently mutated tumor suppressor gene in endometrial carcinoma. 75% of the detected mutations were clustered in exons 5 and 8. Out of the 39 mutations detected in 24 cases, 20 were frameshifts and 19 were nonsense, missense, or silent mutations. Some specimens harboured more than one mutation. The results of current study on Slovak women were compared to a previous study performed on Polish population. The two sets of results were similar.