Qian Bing, Leng Wenshu, Yan Zhengqing, Lu Jin, Chen Shiqing, Yi Huan, Jiang Zhi
Jiangsu Cancer Hospital, Jiangsu Institute of Cancer Research, The Affiliated Cancer Hospital of Nanjing Medical University, Nanjing, China.
Department of Medical Affairs, The Medical Department, 3D Medicines Inc., Shanghai, China.
Front Oncol. 2022 Feb 25;12:778545. doi: 10.3389/fonc.2022.778545. eCollection 2022.
PARP inhibitors have been approved as targeted therapy for BRCA-deficient metastatic ovarian cancer (OC). Fanconi anemia complementation group A (), one of the homologous recombination repair pathway genes, is a susceptibility gene to breast cancer and OC. Therefore, it is interesting to investigate whether germline -mutated relapsed epithelial OC could achieve clinical benefit from the treatment of PARP inhibitor.
A 49-year-old female patient without a family history of cancer was diagnosed with epithelial OC. This patient underwent surgical resection plus platinum-based treatment twice in 2016 and 2018, successively. After the second relapse in July 2019, the patient underwent another radical resection. The next-generation sequencing analysis results revealed a germline mutation in the tumor tissue. Subsequently, the third-line treatment of liposomal doxorubicin hydrochloride plus lobaplatin was administrated for five cycles with the patient's consent. Then, oral niraparib (200 mg daily) was given for maintenance treatment. During the follow-up, no evidence of tumor recurrence was observed. Currently, the survival with no evidence of disease has already exceeded 21 months, and the treatment is still going on.
This case highlighted that OC patients harboring pathogenic gene alterations in the homologous recombination pathway might achieve clinical benefit from PARP inhibitors, which should be confirmed in further studies.
聚（ADP - 核糖）聚合酶（PARP）抑制剂已被批准作为BRCA缺陷型转移性卵巢癌（OC）的靶向治疗药物。范可尼贫血互补组A（FANCA）是同源重组修复途径基因之一，是乳腺癌和OC的易感基因。因此，研究携带种系FANCA突变的复发性上皮性OC患者是否能从PARP抑制剂治疗中获得临床益处具有重要意义。
一名49岁无癌症家族史的女性患者被诊断为上皮性OC。该患者在2016年和2018年先后接受了两次手术切除加铂类治疗。2019年7月第二次复发后，患者再次接受根治性切除。下一代测序分析结果显示肿瘤组织中存在种系FANCA突变。随后，在患者同意下给予脂质体盐酸阿霉素加洛铂进行三线治疗，共五个周期。然后，给予口服尼拉帕利（每日200mg）进行维持治疗。随访期间，未观察到肿瘤复发迹象。目前，无疾病证据的生存期已超过21个月，治疗仍在继续。
该病例表明，在同源重组途径中携带致病基因改变的OC患者可能从PARP抑制剂治疗中获得临床益处，这一点有待进一步研究证实。
