Comparison of cytogenetic and molecular features observed in endometrial cancers: known clinic and difficulties in treatment




Kemine Uzel, Department of Obstetrics and Gynecology, Demiroglu Science University, Istanbul, Turkey
Seda E. Keskin, Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Filiz Bilir, Department of Obstetrics and Gynecology, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Merve Gokbayrak, Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Gulhan Demir, Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Naci Cine, Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Gupse Turan, Department of Medical Pathology, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Aydın Corakcı, Department of Obstetrics and Gynecology, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey
Hakan Savlı, Department of Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey


Objective: Understanding the relationship between genetic structure and the molecular changes involved in endometrial cancer (EC) provides an opportunity to personalize treatments and incorporate targeted therapies. Method: We compared cytogenetic and molecular features observed in tumoral and adjacent healthy tissue endometrium samples in EC patients. Results: Non-clonal chromosome aberrations (NCCAs) frequently in patients with EC, especially in 10,15,17,22, X chromosomes and were monitored in 73.7%, clonal chromosomal alterations were observed in 26.3% of the patients. Down POLE gene expression in 42.1%, up p53gene expression in 57.9%, PTEN down-regulation in 47.3%, down ARID1A gene expression in 42.1%, PIK3CA up-regulation was observed in 68% of patients. Conclusion: The up-regulation of tumor suppressor genes in our study shows that not only these genes are involved but also different pathways and factors play a role in tumorigenesis. Furthermore, an increased number of NCCAs shows an essential role in the development of ECs.



Keywords: Endometrial cancer. Genomics. Pathology. Prognostic factors. Targeted therapy.