PTENSequence Analysis in Endometrial Hyperplasia and Endometrial Carcinoma in Slovak Women

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.

PTEN as a Prognostic/Predictive Biomarker in Cancer: An Unfulfilled Promise?

“…EC is one of the most common female neoplasia. PTEN mutations are found in approximately 25% of cases of hyperplasia and up to 80% of endometrioid EC (EEC) cases [99,100]. In particular, EEC is one of the most common types of endothelial carcinoma, and is characterized by microsatellite instability and mutation in KRAS, PI3KCA and PTEN [101].…”

RETRACTED ARTICLE: Serum levels of PTEN mRNA in colorectal cancer: a case-control study

“…It encodes a protein with a weight of 47 kDa, which contains 403 amino acids [13,14]. PTEN gene consists of a C2 domain binding to the membrane phospholipids and an N-terminal phosphatase domain whose active site is responsible for the enzymatic function of this protein [15]. PTEN is initially identified to be disrupted in plenty of sporadic tumors and targeted by germline mutations [16].…”

PTEN Expression as a Complementary Biomarker for Mismatch Repair Testing in Breast Cancer

“…However, it is still controversial as to whether there is a mechanistic relationship between these different molecular mechanisms [31][32][33][34]. It has been hypothesized that the polyadenosine tracts in PTEN might be a stochastic target for mutations in dMMR endometrial tumors [19,31,35,36]. Similar results were observed in colorectal cancer.…”