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携带BRCA2和PTEN突变的转移性去势抵抗性前列腺癌的个性化治疗方法:病例报告

Personalized Treatment Approach to Metastatic Castration-Resistant Prostate Cancer with BRCA2 and PTEN Mutations: A Case Report.

作者信息

Julka Pramod Kumar, Verma Amit, Gupta Kush

机构信息

Max Institute of Cancer Care, New Delhi, India.

Catalyst Clinical Services Pvt. Ltd., New Delhi, India.

出版信息

Case Rep Oncol. 2020 Feb 4;13(1):55-61. doi: 10.1159/000505182. eCollection 2020 Jan-Apr.

Abstract

DNA repair mutations (BRCA1 and BRCA2) are found in metastatic castration-resistant prostate cancer (CRPC) patients. Here, we report a case of a 71-year-old male patient with metastatic CRPC along with BRCA2 and PTEN mutations. As per the genomic findings of the Foundation One report, FDA-approved therapies were available for other tumor types, such as olaparib for the loss of BRCA2 and everolimus for the loss of PTEN exons 2-9. These findings were confirmed in another novel phenotypic assay that revealed the sensitivity of olaparib and carboplatin combination therapy. After 4 cycles, our patient achieved a partial response along with a good performance status.

摘要

在转移性去势抵抗性前列腺癌(CRPC)患者中发现了DNA修复突变(BRCA1和BRCA2)。在此,我们报告一例71岁男性转移性CRPC患者,同时伴有BRCA2和PTEN突变。根据Foundation One报告的基因组学结果,FDA批准的疗法可用于其他肿瘤类型,如用于BRCA2缺失的奥拉帕利和用于PTEN外显子2-9缺失的依维莫司。这些结果在另一项新的表型试验中得到证实,该试验显示了奥拉帕利与卡铂联合治疗的敏感性。4个周期后,我们的患者获得了部分缓解,且身体状况良好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a4b/7036550/53924c5bf151/cro-0013-0055-g01.jpg

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