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前列腺癌的遗传背景。基因检测在高危前列腺癌病例判定及晚期前列腺癌患者靶向化疗选择中的应用。

Prostate cancer genetic background. The introduction of genetic testing in the determination of high-risk prostate cancer cases and selection of targeted chemotherapy in advanced prostate cancer patients.

作者信息

Kazik Jakub

机构信息

Department of Urology, Provincial Integrated Hospital in Elblag, Poland.

出版信息

Cent European J Urol. 2024;77(4):625-636. doi: 10.5173/ceju.2024.0049. Epub 2024 Dec 17.

Abstract

INTRODUCTION

Prostate cancer (PCa) is a major challenge in urology, with increasing incidence and mortality. Despite advances in diagnosis and treatment, certain patient groups remain poorly served. Genetic factors, particularly in hereditary prostate cancer (HPCa), are now recognized as significant contributors to disease progression. This review focuses on the role of genetic mutations in PCa, their impact on diagnosis, and management.

MATERIAL AND METHODS

This review summarizes current literature on genetic mutations linked to PCa, including , and others. These mutations are associated with more aggressive disease, earlier onset, and may influence treatment strategies. Guidelines from the Philadelphia Prostate Cancer Consensus Conference (PPCCC), the American National Comprehensive Cancer Network (NCCN), and the European Association of Urology (EAU) on genetic testing are also discussed.

RESULTS

Genetic screening is increasingly recommended for high-risk individuals, such as those with a family history or aggressive PCa. Identifying mutations allows for early detection and tailored treatment, including more frequent screening and targeted therapies. Specific mutations, like those in genes, can benefit from chemotherapy in advanced stages. Genetic testing provides valuable information to guide patient management, improving early detection and patient outcomes.

CONCLUSIONS

Genetic testing plays a crucial role in PCa management, enabling personalized care for high-risk patients. As genetic research advances, incorporating genetic screening into clinical practice will enhance early diagnosis and treatment outcomes, ultimately improving patient survival and quality of life.

摘要

引言

前列腺癌(PCa)是泌尿外科的一项重大挑战,其发病率和死亡率不断上升。尽管在诊断和治疗方面取得了进展,但某些患者群体仍然得不到充分的治疗。遗传因素,尤其是遗传性前列腺癌(HPCa)中的遗传因素,现在被认为是疾病进展的重要因素。本综述重点关注基因突变在前列腺癌中的作用、它们对诊断和管理的影响。

材料与方法

本综述总结了当前关于与前列腺癌相关的基因突变的文献,包括 ,以及其他方面。这些突变与更具侵袭性的疾病、更早的发病有关,并且可能影响治疗策略。还讨论了费城前列腺癌共识会议(PPCCC)、美国国家综合癌症网络(NCCN)和欧洲泌尿外科学会(EAU)关于基因检测的指南。

结果

越来越多的人建议对高危个体进行基因筛查,例如那些有家族病史或侵袭性前列腺癌的人。识别突变有助于早期检测和量身定制治疗,包括更频繁的筛查和靶向治疗。特定的突变,如 基因中的突变,在晚期可从化疗中获益。基因检测为指导患者管理提供了有价值的信息,改善了早期检测和患者预后。

结论

基因检测在前列腺癌管理中起着至关重要的作用,能够为高危患者提供个性化护理。随着基因研究的进展,将基因筛查纳入临床实践将提高早期诊断和治疗效果,最终改善患者的生存率和生活质量。

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本文引用的文献

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Inherited TP53 Variants and Risk of Prostate Cancer.遗传 TP53 变异与前列腺癌风险。
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