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病例报告:晚期三阴性乳腺癌患者化疗不耐受后,新出现的BRCA突变使奥拉帕尼治疗获益。

Case report: Emerging BRCA mutation confers benefit from olaparib after chemotherapy intolerance in advanced triple-negative breast cancer.

作者信息

Shen Xia-Bo, Wu Jia-Yi, Li Jia-Ying, Shao Xi-Ying, Wang Xiao-Jia

机构信息

Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital) Hangzhou China.

Wenzhou Medical University Wenzhou China.

出版信息

Clin Case Rep. 2024 Apr 3;12(4):e8680. doi: 10.1002/ccr3.8680. eCollection 2024 Apr.

Abstract

KEY CLINICAL MESSAGE

In a patient with metastatic breast cancer, an acquired BRCA mutation in the BRCA gene was detected, resulting in benefits from olaparib treatment. This underscores the importance of ongoing genetic phenotype testing after paclitaxel chemotherapy.

ABSTRACT

Triple-negative breast cancer (TNBC) is associated with a poor prognosis and elevated mortality risk. BRCA mutations are commonly regarded as prevalent mutations in TNBC patients, strongly associated with congenital familial heredity. Dynamic changes in mutation sites, however, are rarely reported. In this case report, we report a 59-year-old TNBC patient who developed pulmonary metastases post-chemoradiotherapy. No BRCA mutations were detected through NGS. After 7.6 months of nab-paclitaxel treatment, the patient experienced progression of lung metastases, and BRCA mutations were detected through NGS testing. Subsequent administration of olaparib resulted in a reduction in lung metastasis, demonstrating significant therapeutic efficacy. This case underscores the infrequent occurrence of treatment-induced BRCA mutations and emphasizes the significance of dynamic NGS genetic testing for real-time assessment of a patient's mutational status.

摘要

关键临床信息

在一名转移性乳腺癌患者中,检测到BRCA基因存在获得性突变,奥拉帕利治疗取得了疗效。这凸显了在紫杉醇化疗后持续进行基因表型检测的重要性。

摘要

三阴性乳腺癌(TNBC)预后较差,死亡风险较高。BRCA突变通常被认为是TNBC患者中常见的突变,与先天性家族遗传密切相关。然而,突变位点的动态变化鲜有报道。在本病例报告中,我们报告了一名59岁的TNBC患者,其在放化疗后出现肺转移。通过二代测序(NGS)未检测到BRCA突变。在接受7.6个月的白蛋白结合型紫杉醇治疗后,患者肺转移进展,通过NGS检测发现了BRCA突变。随后给予奥拉帕利治疗后肺转移减少,显示出显著的治疗效果。该病例强调了治疗诱导的BRCA突变发生率较低,并强调了动态NGS基因检测对于实时评估患者突变状态的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6989/10988688/d43d1e305c43/CCR3-12-e8680-g003.jpg

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