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体细胞BRCA2突变阳性的男性并发副乳腺癌(BC)和非小细胞肺癌(NSCLC):帕博西尼、氟维司群和亮丙瑞林对铂类暴露且内分泌难治性、伴有细胞周期蛋白D1和FGFR1扩增的乳腺癌具有优异疗效,而卡铂、紫杉醇和放疗对非小细胞肺癌具有优异疗效。

Somatic BRCA2 Mutation-Positive Concurrent Accessory Male Breast Cancer (BC) and Non-Small Cell Lung Cancer (NSCLC): Excellent Efficacy of Palbociclib, Fulvestrant and Leuprolide in Platinum-Exposed and Endocrine-Refractory BC Associated with Cyclin D1 and FGFR1 Amplification and of Carboplatin, Paclitaxel and Radiation in NSCLC.

作者信息

Cheng Yu, Li Ningjing, Eapen Ann, Parajuli Ritesh, Mehta Rita

机构信息

Division of Hematology and Oncology, UC Irvine Medical Center, Irvine, California, USA.

Lutheran General Hospital, Park Ridge, Illinois, USA.

出版信息

Case Rep Oncol. 2019 Jun 26;12(2):494-499. doi: 10.1159/000501304. eCollection 2019 May-Aug.

Abstract

Accessory male breast cancer (BC) is a rare entity and is associated with poor outcome. We report a 76-year-old patient who was diagnosed with concurrent accessory breast and primary lung cancer, both were positive for somatic BRCA-2 (E1593D) mutation. He received concurrent radiation and platinum-based chemotherapy for lung cancer with good response, but breast cancer progressed in about 8 months, and further progressed after single agent anastrozole in 10 months. Next Generation Sequencing (NGS) of breast cancer was also positive for (Cyclin D1) and FGFR1 amplifications. Despite a poor molecular profile of breast cancer, and progression following platinum-based chemotherapy and anastrozole, he was successfully treated with the Cyclin-dependent kinase (CKD) 4/6 inhibitor palbociclib, estrogen-receptor down-regulator fulvestrant and luteinizing hormone-releasing hormone (LHRH) agonist leuprolide with the duration of response of 21 months which has exceeded duration of response to prior treatments. This case is of interest given FDA expanded the approval of palbociclib in combination with AI or fulvestrant for male patients with HR-positive, HER2-negative metastatic breast cancer in Apr. 2019 based on real-world data from electronic health records.

摘要

男性副乳癌是一种罕见的疾病,且预后较差。我们报告一例76岁患者,其被诊断为同时患有副乳癌和原发性肺癌,二者的体细胞BRCA-2(E1593D)突变均呈阳性。他接受了针对肺癌的同步放疗和铂类化疗,反应良好,但乳腺癌在约8个月时进展,在使用阿那曲唑单药治疗10个月后进一步进展。乳腺癌的二代测序(NGS)结果显示细胞周期蛋白D1(Cyclin D1)和FGFR1扩增也呈阳性。尽管乳腺癌的分子特征不佳,且在铂类化疗和阿那曲唑治疗后病情进展,但他通过细胞周期蛋白依赖性激酶(CKD)4/6抑制剂哌柏西利、雌激素受体下调剂氟维司群和促性腺激素释放激素(LHRH)激动剂亮丙瑞林成功治疗,缓解持续时间为21个月,超过了先前治疗的缓解持续时间。鉴于美国食品药品监督管理局(FDA)基于电子健康记录的真实世界数据,于2019年4月扩大了哌柏西利与芳香化酶抑制剂(AI)或氟维司群联合用于HR阳性、HER2阴性转移性乳腺癌男性患者的批准范围,该病例具有一定意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f050/6616081/f12694852cc5/cro-0012-0494-g01.jpg

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