聚（ADP-核糖）聚合酶（PARP）抑制剂在存在体细胞突变的复发性子宫平滑肌肉瘤中的临床应用。

Shammas Natalie, Yang Tiffany, Abidi Alireza, Amneus Malaika, Hodeib Melissa

Obstetrics and Gynecology, Adventist Health White Memorial Medical Center, Los Angeles, CA, USA.

Gynecology Oncology, Kaiser Permanente Riverside Medical Center, Riverside, CA, USA.

Gynecol Oncol Rep. 2022 Jul 14;42:101044. doi: 10.1016/j.gore.2022.101044. eCollection 2022 Aug.

Uterine leiomyosarcoma (uLMS) is an aggressive mesenchymal tumor associated with a poor prognosis. Research demonstrates that PARP inhibitors (PARPi) improve disease-stable survival in patients with somatic mutations through the process of synthetic lethality. Therefore, PARPi's may have a role in treating gynecologic malignancies with deleterious mutations. This patient is a 50-year-old female with a history of stage IB uterine leiomyosarcoma, complicated by recurrence along the vaginal cuff and metastases to the lungs. A somatic mutation was identified, and the patient was started on Olaparib for treatment of recurrent disease. The patient has now been disease free for two years. We recommend next generation sequencing be performed to identify functional BRCA1/2 loss in uLMS as PARPi may be a potential targeted therapy for uLMS.

子宫平滑肌肉瘤（uLMS）是一种侵袭性间叶肿瘤，预后较差。研究表明，聚（ADP-核糖）聚合酶抑制剂（PARPi）通过合成致死过程改善了具有体细胞突变患者的疾病稳定生存期。因此，PARPi可能在治疗具有有害突变的妇科恶性肿瘤中发挥作用。该患者为50岁女性，有IB期子宫平滑肌肉瘤病史，并发阴道袖口复发和肺转移。已鉴定出体细胞突变，患者开始使用奥拉帕尼治疗复发性疾病。该患者目前已无病两年。我们建议进行下一代测序，以确定uLMS中功能性BRCA1/2缺失，因为PARPi可能是uLMS的一种潜在靶向治疗方法。