Peterson Mariko, Kolin David L, Konstantinopoulos Panagiotis A
Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA, United States.
Front Oncol. 2024 Mar 27;14:1357980. doi: 10.3389/fonc.2024.1357980. eCollection 2024.
Patients with platinum-resistant recurrent high grade serous ovarian carcinoma have poor outcomes and limited treatment options.
We present a case of a 48-year-old woman with platinum-resistant high grade serous ovarian carcinoma harboring the pathogenic R611Q variant with concomitant single copy loss of (suggesting biallelic inactivation) identified in targeted tumor sequencing. The patient was treated with the mTOR inhibitor everolimus, with an excellent response by imaging and a marked decrease in CA125; she remained on everolimus for 19 months until she developed progressive disease.
While mTOR inhibition is frequently used in tumors associated with tuberous sclerosis complex (TSC), such as lymphangioleiomyomatosis and malignant perivascular epithelioid cell tumors, this is the first case of a patient with ovarian cancer harboring mutations who responded to mTOR inhibition. This case highlights the utility of targeted DNA sequencing in the management of ovarian carcinoma and demonstrates the value of tumor-agnostic targeted therapies.
铂耐药复发性高级别浆液性卵巢癌患者预后较差且治疗选择有限。
我们报告一例48岁铂耐药高级别浆液性卵巢癌女性患者，在靶向肿瘤测序中发现其携带致病性R611Q变异，同时存在单拷贝缺失（提示双等位基因失活）。该患者接受了mTOR抑制剂依维莫司治疗，影像学显示疗效极佳，CA125显著下降；她持续使用依维莫司19个月，直至疾病进展。
虽然mTOR抑制常用于与结节性硬化症（TSC）相关的肿瘤，如淋巴管平滑肌瘤病和恶性血管周上皮样细胞瘤，但这是首例携带 突变的卵巢癌患者对mTOR抑制有反应的病例。该病例突出了靶向DNA测序在卵巢癌管理中的作用，并证明了不考虑肿瘤类型的靶向治疗的价值。
