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