Julka Pramod Kumar, Verma Amit, Gupta Kush
Max Institute of Cancer Care, New Delhi, India.
Catalyst Clinical Services Pvt. Ltd., New Delhi, India.
Case Rep Oncol. 2020 Feb 4;13(1):55-61. doi: 10.1159/000505182. eCollection 2020 Jan-Apr.
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.
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。