在细胞癌患者的2057个生殖基因测试中的见解支持重新审视测试标准
Roseline Vibert1,2, Yahya El Baroudi3, Maude Vecten4,5
1Département de Médecine Génomique des Tumeurs et Cancers, Hôpital Européen Georges Pompidou, Fédération de Génétique et de Médecine Génomique, Université Paris Cité, APHP Centre, Paris, France. roseline.vibert@inserm.fr.
European journal of human genetics : EJHG
|January 8, 2026
概括
遗传性细胞癌 (RCC) 的基因检测在明显零星的病例中产量低. 目前的法国指南可能需要修订,建议降低年龄门,并纳入瘤分析以更好地诊断.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 医学诊断 医学诊断 医学诊断
背景情况:
- 细胞癌 (RCC) 可以是零星的或遗传的,遗传病例与特定的基因突变有关.
- 多基因组 (MGP) 测试越来越多地用于确定RCC的遗传倾向.
- 目前的法国指南 (PREDIR) 建议基于临床标准进行基因检测.
研究的目的:
- 评估目前遗传性RCC的遗传检测标准的诊断产量.
- 评估MGP测试和瘤分析在将遗传性与零星性RCC区分开来时的有用性.
- 建议对现有的RCC遗传测试指南进行修订.
主要方法:
- 对2057名经过生殖线MGP测试的RCC患者进行了回顾性分析.
- 评估了140名患者的瘤分析结果.
- 检测基因病原性/可能病原性变体检测率的评估.
主要成果:
- 观察到的总体生殖系病原性/可能病原性变异率为3.5%.
- 综合症病例的检测率为39%,而显然零星病例的检测率为1.2%.
- 在56.3%的瘤分析中发现了体性致病变体.
结论:
- 在零星的透明细胞RCC中识别生殖系变异的可能性很低.
- 目前,MGP测试对所有零星RCC亚型的临床实用性似乎有限.
- 修订年龄门和纳入瘤分析可以提高遗传性RCC的诊断准确性.
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