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携带BRCA1胚系突变且伴有脑干转移的侵袭性双侧乳腺癌和高级别浆液性卵巢癌接受PARP抑制剂治疗的情况

Invasive bilateral breast cancer and high grade serous ovarian cancer with BRCA1-germline mutation and brainstem metastasis under PARP inhibitors.

作者信息

Zahari Mihaela Mărioara, Chiorean Angelica Rita, Duma Maria Magdalena, Ungureanu Andrei, Kacso Gabriel

机构信息

"Prof. Dr. Ion Chiricuță" Oncologic Institute, Cluj-Napoca, Romania.

Medimages Clinic, Cluj-Napoca, Romania.

出版信息

Arch Clin Cases. 2021 Oct 27;6(3):69-75. doi: 10.22551/2019.24.0603.10156. eCollection 2019.

Abstract

For breast cancer patients, BRCA gene mutations are predictive of a good response to chemotherapy, but are hampered by a high risk of bilateral and synchronous or metachronous ovarian cancer. Novel therapies such as PARP-inhibitors have proven effective for BRCA1/2 mutated ovarian cancer. We present the case of a 50-year-old woman, initially diagnosed with bilateral luminal B breast cancer with BRCA1 mutation. She received neoadjuvant chemotherapy, modified radical mastectomy and bilateral adnexectomy, while subsequently identifying a synchronous advanced ovarian cancer, stage FIGO IIIC, followed by adjuvant platinum chemotherapy and external radiotherapy. After a 12 months disease-free interval a brainstem tumor was discovered, for which whole-brain radiotherapy was performed. She received 6 months of PARP-inhibitors through an early access program. With only a partial at the end of treatment, the brainstem tumor was still in progression. Due to evolution of the brain metastasis, second line chemotherapy (taxanes and Bevacizumab) was administered, with complete radiologic response. The particularity of this case resides in the coexistence of a breast and ovarian cancer in the same patient with BRCA1-germline mutation who responded to a new line of therapy - the PARP inhibitors. While being unable to perform a biopsy, we speculate that the brain metastasis in this case was most likely of breast origin.

摘要

对于乳腺癌患者,BRCA基因突变预示着对化疗有良好反应,但因双侧及同时或异时性卵巢癌的高风险而受到阻碍。PARP抑制剂等新型疗法已被证明对BRCA1/2突变的卵巢癌有效。我们报告了一例50岁女性的病例,该患者最初被诊断为双侧管腔B型乳腺癌伴BRCA1突变。她接受了新辅助化疗、改良根治性乳房切除术和双侧附件切除术,随后发现了同步性晚期卵巢癌(国际妇产科联盟IIIC期),接着进行了辅助铂类化疗和外照射放疗。在12个月的无病间隔期后发现了脑干肿瘤,并进行了全脑放疗。她通过早期准入项目接受了6个月的PARP抑制剂治疗。治疗结束时仅部分缓解,脑干肿瘤仍在进展。由于脑转移灶进展,给予二线化疗(紫杉烷类和贝伐单抗),影像学完全缓解。该病例的特殊性在于,同一名携带BRCA1种系突变的患者同时患有乳腺癌和卵巢癌,且对新的治疗方案——PARP抑制剂有反应。由于无法进行活检,我们推测该病例中的脑转移瘤很可能起源于乳腺。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/8565681/48af73bf2f38/acc-06-03-69-g001.jpg

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