影响质量控制 (QC) 失败率的因素 阴性乳腺癌 (BRCA) 基因测试 阴性抵抗性前列腺癌:澳大利亚癌症护理中心的经验
Cian O'Leary1, Edward Yoong1, Admire Matsika2
1Mater Cancer Care Centre, Mater Hospital Brisbane, Brisbane, Queensland, Australia.
Asia-Pacific journal of clinical oncology
|September 2, 2025
概括
由于较旧的组织样本,对割抗性前列腺癌 (CRPC) 的体质BRCA检测可能会失败. 从活检到检测的时间较长会增加不确定的结果,建议在5年以上的样本中重复活检.
科学领域:
- 癌症学
- 遗传学
- 癌症诊断
背景情况:
- 结核抗性前列腺癌 (CRPC) 的预后不佳.
- 乳腺癌 (BRCA) 基因1和2的突变与前列腺癌的预后较差有关.
- 体内BRCA检测对于向治疗至关重要,但可能会产生不确定的结果,阻碍患者获得治疗.
研究的目的:
- 在CRPC患者队列中评估体质BRCA检测结果.
- 确定导致质量控制 (QC) 失败和不确定的测试的因素.
主要方法:
- 从2020年至2023年对CRPC患者记录的回顾性审查.
- 患者的体质BRCA检测的识别.
- 收集有关活检特征,结果的时间和测试结果的数据.
主要成果:
- 在147名CRPC患者中,54名 (40%) 接受了体质BRCA检测.
- 35个测试 (65%) 产生了可操作的结果; 19个 (35%) 是不确定的/质量控制失败.
- 从活检到检测的时间间隔较长与QC失败有显著的相关性 (60 vs. 27个月,p=0. 033).
结论:
- 在体内BRCA检测之前延长组织保留间隔增加了不确定的结果的风险.
- 对于有超过5年的存档组织的CRPC患者,建议对BRCA检测进行重复活检.
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