Department of Oncology and Hematology, Kaiser Permanente, Santa Clara, CA.
Division of Research, Kaiser Permanente, Oakland, CA.
Perm J. 2021 May;25. doi: 10.7812/TPP/20.251.
Patients with metastatic uterine leiomyosarcoma (uLMS) have poor prognosis due to limited treatment options, especially when disease progresses on doxorubicin and gemcitabine-docetaxel regimens. Here we report a patient whose metastatic uLMS contains a BRCA2 deep deletion as well as TP53 and PTEN deep deletion. The patient responded rapidly to olaparib, a poly (ADP-ribose) polymerase inhibitor, after progressing on gemcitabine-docetaxel, doxorubicin, and temozolomide regimens. This case report shall be helpful to the treatment of other patients with metastatic uLMS that harbors a BRCA2 mutation or deletion.
患有转移性子宫平滑肌肉瘤（uLMS）的患者由于治疗选择有限，预后较差，尤其是在多柔比星和吉西他滨-多西紫杉醇方案治疗进展后。在这里，我们报告了一名患者，其转移性 uLMS 存在 BRCA2 深度缺失以及 TP53 和 PTEN 深度缺失。该患者在吉西他滨-多西紫杉醇、多柔比星和替莫唑胺方案进展后，对聚（ADP-核糖）聚合酶抑制剂奥拉帕利迅速产生反应。本病例报告将有助于治疗其他携带 BRCA2 突变或缺失的转移性 uLMS 患者。
