遗传性癌的遗传检测和咨询:临床医生需要知道什么?
Chiara Re1,2,3, Angela Pecoraro4, Grant D Stewart3,5
1Division of Experimental Oncology, Unit of Urology; Urological Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy.
European urology open science
|November 24, 2025
概括
遗传性细胞癌 (H-RCC) 诊断不足,但遗传咨询和检测可以改善患者的护理. 本综述指导临床医生识别,咨询和管理H-RCC综合征,以获得更好的结果.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 遗传性细胞癌 (H-RCC) 占癌的5-8%.
- H-RCC往往被诊断不足,导致遗传咨询的利用不足.
- 了解H-RCC综合征对于及时诊断和管理至关重要.
研究的目的:
- 为提供主要H-RCC综合征的概述.
- 为识别,咨询和管理H-RCC提供临床指南.
- 提高临床医生的意识和在H-RCC护理中的多学科合作.
主要方法:
- 在PubMed/MEDLINE的非系统文献搜索 (2024年6月,更新至2025年2月).
- 包括指导方针,共识声明和原始研究.
- 手动参考选额外的来源.
主要成果:
- H-RCC综合征在遗传学,组织学和攻击性方面有所不同,具有重叠的特征.
- 在RCC中存在国际基因测试指南,但标准可以进行辩论.
- 管理策略有所不同,从对侵略性形式的迅速手术到对其他形式的积极监视.
- 有效的遗传咨询是测试前和测试后必不可少的,包括亲属的级联测试.
- 主流遗传测试需要适当的临床医生培训和与遗传学服务的合作.
结论:
- 遗传评估是细胞癌管理的基石.
- 提高临床医生的意识和促进多学科合作是提高H-RCC护理的关键.
- 基因风险评估和测试改善了遗传性癌患者的护理,监测和治疗.
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