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

Cirugia y cirujanos Pub Date : 2025-01-08 DOI:10.24875/CIRU.23000328

Kemine Uzel, Seda E Keskin, Filiz Bilir, Merve Gokbayrak, Gulhan Demir, Naci Cine, Gupse Turan, Aydın Corakcı, Hakan Savlı

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Abstract

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.

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子宫内膜癌细胞遗传学和分子特征的比较：已知的临床和治疗的困难。

目的：了解子宫内膜癌（EC）的遗传结构与分子变化之间的关系，为个性化治疗和结合靶向治疗提供了机会。方法：比较EC患者肿瘤和邻近健康组织子宫内膜的细胞遗传学和分子特征。结果：非克隆性染色体畸变（NCCAs）在EC患者中较为常见，以10、15、17、22、X染色体为主，检出率为73.7%，克隆性染色体畸变发生率为26.3%。p53基因表达上调57.9%，PTEN基因表达下调47.3%，ARID1A基因表达下调42.1%，PIK3CA基因表达上调68%。结论：本研究中抑癌基因的上调表明，肿瘤发生过程中不仅有抑癌基因参与，而且有不同的途径和因素参与。此外，ncca数量的增加表明在ECs的发展中起着重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Cirugia y cirujanos

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