Llinás-Quintero Néstor, Cabrera-Florez Eduardo, Mendoza-Fandiño Gustavo, Matute-Turizo Gustavo, Vasquez-Trespalacios Elsa M, Gallón-Villegas Luis J
Breast Surgery Fellowship Program, School of Medicine, CES University, Medellín, Colombia.
School of Medicine, CES University, Medellín, Colombia.
Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breast mass positive for high-grade medullar carcinoma with triple-negative biomolecular profile. Further workup was performed finding a left ovarian mass. The patient underwent laparotomy performing optimal cytoreduction on bilateral ovarian tumors; the pathology and immunohistochemistry confirmed bilateral ovary adenocarcinoma with positive peritoneal malignancy. Due to her synchronic breast and ovarian cancers, a genetic profile was performed detecting a new pathogenic variant in the BRCA2 gene: c.3606_3607del (p.Ser1203Cysfs). She was given chemotherapy with carboplatin and paclitaxel obtaining complete clinical response. Regarding her breast cancer, she had a right modified radical mastectomy and prophylactic left mastectomy obtaining complete clinical response. This case presents with an unusual subtype and difficult histologic diagnosis of a synchronic medullar breast cancer and ovary carcinoma associated with a new mutation of the BRCA2 gene.
我们报告一例52岁女性，有胰腺癌和结肠癌家族史，因右乳肿块就诊，该肿块经检查为高级别髓样癌，具有三阴性生物分子特征。进一步检查发现左侧卵巢有肿块。患者接受剖腹手术，对双侧卵巢肿瘤进行了最佳细胞减灭术；病理和免疫组化证实为双侧卵巢腺癌伴腹膜恶性肿瘤阳性。由于她同时患有乳腺癌和卵巢癌，进行了基因检测，发现BRCA2基因有一个新的致病变异：c.3606_3607del（p.Ser1203Cysfs）。她接受了卡铂和紫杉醇化疗，获得了完全临床缓解。关于她的乳腺癌，她接受了右改良根治性乳房切除术和预防性左乳房切除术，也获得了完全临床缓解。该病例呈现出一种不寻常的亚型，同步性髓样乳腺癌和卵巢癌的组织学诊断困难，且与BRCA2基因的新突变有关。
