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伴有体细胞BRCA1突变的卵巢癌皮肤转移:一例报告及文献复习

Skin metastasis from ovarian cancer with somatic BRCA1 mutation: A case report and literature review.

作者信息

Zhang Jingheng, He Wenfeng, Zhang Zhenhua, Dong Hui, Deng Xiangyu, Wen Qinglian, Li Dan

机构信息

Department of Oncology, Affiliated Hospital of Clinical School of Medicine, Southwest Medical University, Luzhou, Sichuan 646000, P.R. China.

Department of Oncology, Luzhou People's Hospital, Luzhou, Sichuan 646000, P.R. China.

出版信息

Oncol Lett. 2024 Jun 3;28(2):348. doi: 10.3892/ol.2024.14481. eCollection 2024 Aug.

Abstract

Skin metastasis from ovarian cancer is rare, and its prognosis is poor. Effective therapeutic strategies are currently lacking, but the combination of various treatment methods shrink the tumor and relieve symptoms. The present study reports a rare case of advanced ovarian cancer with skin metastases and intestinal wall thickening, along with a BRCA1 DNA repair associated (BRCA1) mutation. After standard first-line treatment and non-standard second-line treatment, the patient developed skin metastases. The patient's skin itching, pain and lesions were completely relieved after administering bevacizumab in combination with paclitaxel and carboplatin. After 4 months, skin metastases recurred along with anal distension during maintenance treatment with oral poly(ADP ribose) polymerase (PARP) inhibitors. The patient was treated again with bevacizumab combined with docetaxel, and the anal distension was significantly relieved. Angiogenesis therapy combined with chemotherapy is effective, but that the disease-free survival time is short, and PARP inhibitor maintenance effect is limited even in cases with a BRCA1 gene mutation.

摘要

卵巢癌皮肤转移罕见,预后较差。目前缺乏有效的治疗策略,但多种治疗方法联合可使肿瘤缩小并缓解症状。本研究报告了1例罕见的晚期卵巢癌伴皮肤转移和肠壁增厚病例,同时存在与BRCA1 DNA修复相关(BRCA1)的突变。在接受标准一线治疗和非标准二线治疗后,患者出现皮肤转移。给予贝伐单抗联合紫杉醇和卡铂治疗后,患者的皮肤瘙痒、疼痛及病变完全缓解。4个月后,在口服聚(ADP核糖)聚合酶(PARP)抑制剂维持治疗期间,皮肤转移复发并伴有肛门坠胀。患者再次接受贝伐单抗联合多西他赛治疗,肛门坠胀明显缓解。血管生成治疗联合化疗有效,但无病生存期短,即使在BRCA1基因突变的病例中,PARP抑制剂维持治疗的效果也有限。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a20/11170256/971c1edd59f6/ol-28-02-14481-g00.jpg

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