Genetic Variations in TP53, RB1, and PTEN in a Selected Sample of Slovak Patients With Metastatic Castration-resistant Prostate Cancer.

IF 1.8 4区医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL In vivo Pub Date : 2024-11-01 DOI:10.21873/invivo.13737

Klaudia Hives Holeckova, Mark Hives, Marian Grendar, Henrieta Blahusiak Drobkova, Jan Kliment

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Abstract

Background/aim: This report aimed to present identified variants with pathogenic potential in three genes - TP53, PTEN, and RB1 - in a selected sample of patients with metastatic castration-resistant prostate cancer (mCRPC) with or without the presence of circulating tumor cells (CTCs) and splice variant AR-V7.

Materials and methods: Next generation sequencing was performed on an Illumina platform to analyse the genetic profiles of 50 patients with mCRPC. Identified variants were validated using the Integrative Genomic Viewer, and the correlation between these variants and the presence of CTC/AR-V7 was subjected to statistical analysis.

Results: The study revealed a total of 15 genetic alterations in the three examined genes. The presence of rs1042522 (TP53) in mCRPC patients was associated with a significantly reduced likelihood of AR-V7 occurrence (p<0.001), indicating a protective effect. Additionally, patients with AR-V7 showed a marked increase in prostate-specific antigen (PSA) levels. Higher PSA levels were correlated with an increased risk of AR-V7 presence.

Conclusion: The identified genetic mutations and PSA levels have a moderate predictive ability for determining AR-V7 status.

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斯洛伐克转移性抗阉割前列腺癌患者样本中 TP53、RB1 和 PTEN 的基因变异。

背景/目的：本报告旨在介绍在部分存在或不存在循环肿瘤细胞（CTC）和剪接变体AR-V7的转移性抗性前列腺癌（mCRPC）患者样本中发现的三个基因（TP53、PTEN和RB1）的致病变体：在Illumina平台上进行了新一代测序，分析了50名mCRPC患者的基因图谱。使用 "整合基因组查看器"（Integrative Genomic Viewer）对识别出的变异进行了验证，并对这些变异与 CTC/AR-V7 存在之间的相关性进行了统计分析：结果：研究发现三个受检基因中共有 15 个基因变异。mCRPC患者中rs1042522（TP53）的存在与AR-V7发生的可能性显著降低有关（p结论：已确定的基因突变和 PSA 水平对确定 AR-V7 状态有一定的预测能力。

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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来源期刊

In vivo 医学-医学：研究与实验

CiteScore

4.20

自引率

4.30%

发文量

330

审稿时长

3-8 weeks

期刊介绍： IN VIVO is an international peer-reviewed journal designed to bring together original high quality works and reviews on experimental and clinical biomedical research within the frames of physiology, pathology and disease management. The topics of IN VIVO include: 1. Experimental development and application of new diagnostic and therapeutic procedures; 2. Pharmacological and toxicological evaluation of new drugs, drug combinations and drug delivery systems; 3. Clinical trials; 4. Development and characterization of models of biomedical research; 5. Cancer diagnosis and treatment; 6. Immunotherapy and vaccines; 7. Radiotherapy, Imaging; 8. Tissue engineering, Regenerative medicine; 9. Carcinogenesis.