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伴有 RAD50 突变的高级卵巢透明细胞癌采用 PARP 抑制剂帕米帕利联合抗血管生成治疗:一例报告。

Advanced ovarian clear cell carcinoma with RAD50 mutation treated by PARP inhibitor pamiparib combined with anti-angiogenesis therapy: a case report.

机构信息

Department of Medical Oncology, 900TH Hospital of Joint Logistics Support Force, Fujian Medical University.

Affiliated Dongfang Hospital, Xiamen University School of Medicine.

出版信息

Anticancer Drugs. 2023 Feb 1;34(2):290-293. doi: 10.1097/CAD.0000000000001412. Epub 2022 Nov 15.

Abstract

Ovarian clear cell carcinoma (OCCC) is a relatively uncommon epithelial ovarian malignancy with unique clinical, histopathologic and genetic characteristics. Patients with advanced OCCC have poor outcomes and are resistant to standard chemotherapy. Targeted therapy offers a novel approach for treating OCCC. We report the case of a 45-year-old female patient with advanced OCCC who experienced relapse after standard treatment. Further, a frameshift mutation in the homologous recombination repair-related gene RAD50 (RAD50-p.I371Ffs*8) was identified by genetic testing. Next, the patient had received targeted combination therapy with poly (ADP-ribose) polymerase (PARP) inhibitor pamiparib and bevacizumab, achieving partial remission. Patient's symptoms improved significantly compared to before. To date, the patient has been followed up for more than half a year with favorable survival and high quality of life. The case report suggested that parmiparib-targeted therapy is a viable treatment option for advanced OCCC patients with RAD50 mutation.

摘要

卵巢透明细胞癌(OCCC)是一种相对罕见的上皮性卵巢恶性肿瘤,具有独特的临床、组织病理学和遗传学特征。晚期 OCCC 患者预后较差,对标准化疗耐药。靶向治疗为 OCCC 的治疗提供了一种新方法。我们报告了一例 45 岁的晚期 OCCC 女性患者,该患者在标准治疗后复发。此外,通过基因检测发现同源重组修复相关基因 RAD50(RAD50-p.I371Ffs*8)存在框移突变。随后,该患者接受了聚(ADP-核糖)聚合酶(PARP)抑制剂帕米帕利和贝伐珠单抗的靶向联合治疗,达到部分缓解。与治疗前相比,患者的症状明显改善。截至目前,该患者的随访时间已超过半年,生存情况良好,生活质量较高。该病例报告提示,对于 RAD50 突变的晚期 OCCC 患者,帕米帕利靶向治疗是一种可行的治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f713/9815817/77e42483303c/acd-34-290-g001.jpg

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