Suppr超能文献

一例携带胚系 BRCA2 致病性变异的卵巢癌肉瘤。

A case of ovarian carcinosarcoma with germline BRCA2 pathogenic variant.

机构信息

Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.

Department of Medical Genetics, University Hospital Kyoto Prefectural University of Medicine, Kyoto, Japan.

出版信息

J Obstet Gynaecol Res. 2024 Dec;50(12):2362-2366. doi: 10.1111/jog.16134. Epub 2024 Oct 29.

Abstract

Ovarian carcinosarcoma in hereditary breast and ovarian cancer syndrome is rare. A 43-year-old woman with a family history of prostate and uterine or ovarian cancer had an 8-cm mass in the right ovary. Although computed tomography suggested peritoneal dissemination to the Douglas pouch, she wanted to preserve her fertility; therefore, she underwent a right salpingo-oophorectomy. Histopathological diagnosis was carcinosarcoma consisting of high-grade serous carcinoma and sarcomatous components, including cartilage. Three weeks later, she underwent radical surgery. The disease was classified as advanced stage IIIB (FIGO 2014). A germline BRCA2 pathogenic variant was identified. After postoperative adjuvant chemotherapy, maintenance therapy with a poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitor was continued for 25 months without recurrence. A detailed examination of a mass in her left breast at her first visit revealed a ductal carcinoma in situ. PARP inhibitors may be effective as maintenance therapy for advanced ovarian carcinosarcoma with germline BRCA mutations.

摘要

遗传性乳腺癌和卵巢癌综合征中的卵巢癌肉瘤罕见。一名 43 岁女性有前列腺癌、子宫癌或卵巢癌家族史,右侧卵巢有 8cm 大小的肿块。尽管计算机断层扫描提示Douglas 窝有腹膜播散,但她希望保留生育能力;因此,她接受了右侧输卵管卵巢切除术。组织病理学诊断为癌肉瘤,由高级别浆液性癌和包括软骨在内的肉瘤成分组成。3 周后,她接受了根治性手术。该疾病被归类为晚期 IIIB 期(FIGO 2014)。发现胚系 BRCA2 致病性变异。术后辅助化疗后,继续使用聚(腺嘌呤二核苷酸-核糖)聚合酶(PARP)抑制剂维持治疗 25 个月,无复发。她首次就诊时对左乳肿块的详细检查显示导管原位癌。PARP 抑制剂可能对携带胚系 BRCA 突变的晚期卵巢癌肉瘤维持治疗有效。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验