病例报告:新出现的BRCA突变在晚期三阴性乳腺癌中,在化疗不耐受后给予olaparib的好处
Xia-Bo Shen1, Jia-Yi Wu1, Jia-Ying Li2
1Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital) Hangzhou China.
Clinical case reports
|April 4, 2024
概括
在三阴性乳腺癌的治疗期间,可以出现获得的BRCA突变. 动态基因测试揭示了这些突变,导致成功地用olaparib治疗转移性疾病.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 医学案例报告 病例报告
背景情况:
- 三重阴性乳腺癌 (TNBC) 呈现出不良预后和高死亡率.
- 在TNBC中,BRCA突变通常与遗传因素有关.
- 获得的,治疗诱导的突变很少被报告.
研究的目的:
- 在TNBC患者中报告获得的BRCA突变病例.
- 突出动态遗传测试的临床意义.
- 为了证明olaparib在治疗BRCA突变转移性转移性乳腺癌中的有效性.
主要方法:
- 下一代测序 (NGS) 用于检测遗传突变.
- 一个59岁的TNBC患者肺转移病例报告.
- 在给出nab-paclitaxel和随后的olaparib后,对治疗反应进行了监测.
主要成果:
- 最初,该患者没有检测到BRCA突变.
- 在接受nab-paclitaxel治疗后,NGS确定了获得的BRCA突变.
- 奥拉帕里布治疗导致肺转移的显著减少.
结论:
- 治疗诱导的BRCA突变可以发生在TNBC患者中.
- 动态NGS测试对于实时评估突变状态至关重要.
- 针对性治疗olaparib可以有效的在患者获得的BRCA突变.
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