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PTEN sequence analysis in endometrial hyperplasia and endometrial carcinoma in Slovak women

H Gbelcová1, P Bakeš2, P Priščáková2

  • 1Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University in Bratislava, Sasinkova 4, 81108 Bratislava, Slovakia ; Department of Biochemistry and Microbiology, Faculty of Food and Biochemical Technology, University of Chemistry and Technology, Prague, Technicka 5, 16628 Prague, Czech Republic.

Analytical Cellular Pathology (Amsterdam)
|June 27, 2015
PubMed

Insights

Mutations in the PTEN gene, a key tumor suppressor, are common in endometrial carcinoma (ECa). This study found PTEN alterations correlate with endometrial hyperplasia and ECa morphology in Slovak women, similar to Polish findings.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Phosphatase and tensin homolog (PTEN) is a crucial tumor suppressor protein.
  • Loss of PTEN function is linked to various cancers, especially endometrial carcinoma (ECa).
  • PTEN alterations are frequently observed in ECa, making it a key gene for study.

Purpose of the Study:

  • To investigate the association between PTEN gene alterations and the morphological spectrum of endometrial hyperplasia and ECa.
  • To analyze PTEN mutations in endometrial tissue samples from Slovak women.
  • To compare findings with previous studies on other populations.

Main Methods:

  • Analysis of 45 endometrial biopsies from Slovak women, including hyperplasia and carcinoma subtypes.
  • Evaluation of formalin-fixed, paraffin-embedded tissues for PTEN gene mutations.
  • Sequencing of PTEN coding regions to identify mutations like frameshifts, nonsense, missense, and silent.

Main Results:

  • PTEN mutations were detected in a significant portion of endometrial carcinoma cases.
  • 75% of identified PTEN mutations were concentrated in exons 5 and 8.
  • A total of 39 mutations were found in 24 cases, with 20 frameshift and 19 other mutation types.
  • Multiple PTEN mutations were observed in some specimens.
  • Results from the Slovak population showed similarity to a previous study on Polish women.

Conclusions:

  • PTEN alterations are prevalent in endometrial carcinoma and correlate with morphological changes.
  • The mutation patterns in Slovak women align with findings in other populations, suggesting conserved mechanisms.
  • Further research into PTEN's role can aid in understanding ECa pathogenesis and developing targeted therapies.

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