在患有细胞癌和相关临床病理特征的患者中,致病性生殖系突变景观
Charles B Nguyen1, Claire Knaus2, Jinju Li3
1Rogel Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI.
JCO precision oncology
|December 21, 2023
概括
一项研究发现,13.1%的细胞癌 (RCC) 患者具有遗传性生殖系变异,近一半具有可向突变. 向基因测试是检测RCC中的这些重要的基因变异的可行选择.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 医学研究 医学研究
背景情况:
- 在某些情况下,细胞癌 (RCC) 有遗传因素.
- 在遗传性RCC中,患病率和特定的遗传变化尚未完全理解.
- 与RCC患者的生殖系变异相关的临床病理因素需要进一步调查.
研究的目的:
- 确定RCC患者队列中的生殖线变化的频率和概况.
- 调查临床病理特征与致病性或可能致病性 (P/LP) 生殖系变体之间的关联.
- 评估基因测试在识别遗传性RCC中的有用性.
主要方法:
- 对321名经过生殖系遗传检测的RCC患者进行了回顾性分析.
- 评估P/LP生殖系变异和相关基因的频率.
- 评估基因检测结果与患者临床病理学数据之间的相关性.
主要成果:
- 13.1%的RCC患者 (42/321) 携带了P/LP生殖系变异.
- 最常发生突变的基因是FLCN (3.1%),SDHB (1.2%),VHL (1.2%),MLH1 (0.9%) 和CHEK2 (1.2%).
- 双侧或多焦点瘤与P/LP变体有显著的相关性 (P=.0012和P=.0098,分别).
- 与多基因小组测试相比,有针对性的基因测试显示了P/LP变异的更高率 (P=.015).
- 45.2%的患有P/LP变异的患者有潜在的可向突变.
- 年龄和家族癌症史 (RCC或非RCC) 显示与生殖系变异状态没有显著的关联.
结论:
- 在未被选择的RCC患者中,很大一部分 (13.4%) 携带了P/LP生殖系变异.
- 近一半的患有已识别的P/LP变体的患者具有潜在的可向突变.
- 向基因小组测试为RCC遗传评估提供了一个可行的策略,特别是在具有综合征特征的病例中.
- 需要进一步的研究来完善基因测试标准,以便在RCC中更广泛地检测生殖系突变.
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