Godin Pierrick, Duhoux Francois P, Mazzeo Filomena, Rojas Michel, Bollue Emmanuel, François Aline, Galant Christine, Coulie Julien, Coyette Maude, Lentini Audrey, Deswisen Yannick, Perlepe Vasiliki, Fellah Latifa, Leconte Isabelle, Berlière Martine
King Albert II Cancer Institute, (Department) Cliniques Universitaires Saint- Luc, Catholic University of Louvain, Brussels, Belgium.
Breast Clinic, Department of Oncology Centre hospitalier de Mouscron CHM Mouscron, Mouscron, Belgium.
Case Rep Oncol. 2022 Mar 14;15(1):238-244. doi: 10.1159/000521840. eCollection 2022 Jan-Apr.
Epidemiological studies suggest that around 10% of breast cancers are due to hereditary predisposition. The risk of cancer is exponentially increased in patients harboring or mutations. Cumulative breast cancer risk by age 80 is estimated to 72% for mutation carriers and 69% for . The cumulative risk estimates for developing ovarian cancer by age 80 are 44% for mutation carriers and 17% for . We present here the case of a 59-year-old woman who developed a left breast cancer in 2014 treated by conservative surgery, radiotherapy, and endocrine therapy with letrozole. The diagnosis of mutation was performed in 2015. In 2018, the patient was referred to our institution for treatment of an aggressive angiosarcoma developed in the same breast. She had undergone radical hysterectomy by the age of 49 years for a benign uterine pathology. In 2020, she developed a tumor in the gastric wall; histological analysis confirmed a serous papillary carcinoma of ovarian origin. She was treated - after gastrectomy and lymphadenectomy - with 6 courses of carboplatin and paclitaxel followed by olaparib therapy. In 2021, she suffered from a chest recurrence of high grade angiosarcoma. New resection with free margins was performed. We discuss the link between angiosarcomas and BRCA mutations, the therapeutic options for angiosarcoma and ovarian cancer of extra ovarian origin and the follow-up modalities.
流行病学研究表明，约10%的乳腺癌归因于遗传易感性。携带 或 突变的患者患癌风险呈指数级增加。80岁时， 突变携带者的累积乳腺癌风险估计为72%， 突变携带者为69%。80岁时， 突变携带者患卵巢癌的累积风险估计为44%， 突变携带者为17%。我们在此介绍一名59岁女性的病例，她于2014年患左乳腺癌，接受了保乳手术、放疗和来曲唑内分泌治疗。2015年进行了 突变诊断。2018年，该患者因同一乳房发生侵袭性血管肉瘤转诊至我院治疗。她49岁时因良性子宫病变接受了根治性子宫切除术。2020年，她胃壁出现肿瘤；组织学分析证实为卵巢来源的浆液性乳头状癌。胃切除和淋巴结清扫术后，她接受了6个疗程的卡铂和紫杉醇治疗，随后接受奥拉帕利治疗。2021年，她出现了高级别血管肉瘤胸部复发。进行了新的切缘阴性切除术。我们讨论了血管肉瘤与BRCA突变之间的联系、血管肉瘤和卵巢外源性卵巢癌的治疗选择以及随访方式。
