Department of Surgery, Tochigi Cancer Center, Yohnan 4-9-13, Utsunomiya, Tochigi, 320-0834, Japan.
Department of Gynecology, Tochigi Cancer Center, Yohnan 4-9-13, Utsunomiya, Tochigi, 320-0834, Japan.
Breast Cancer. 2018 Mar;25(2):243-249. doi: 10.1007/s12282-017-0813-9. Epub 2017 Nov 1.
Primary peritoneal carcinoma is usually advanced at diagnosis and curability is low unless the patient has a small tumor burden. Peritoneal carcinoma can occur in association with hereditary breast and ovarian cancer syndrome, which is thought to account for 5-6% of all breast cancer. Mutations of two breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for hereditary breast and ovarian cancer. Women with BRCA1/2 mutations often undergo risk-reducing salpingo-oophorectomy (RRSO) to prevent both ovarian and breast cancer. However, peritoneal carcinoma has been reported to develop after RRSO in patients with BRCA1/2 mutations. We experienced a patient with peritoneal carcinoma and inguinal lymph node metastasis after surgical resection of breast cancer and subsequent RRSO. This report describes the first case of peritoneal carcinoma arising after RRSO in a Japanese patient with BRCA1 mutation, including a review of the literature on peritoneal carcinoma associated with BRCA1/2 mutation.
原发性腹膜癌通常在诊断时已处于晚期,除非患者肿瘤负担较小,否则治愈的可能性较低。腹膜癌可与遗传性乳腺癌和卵巢癌综合征相关,据认为,遗传性乳腺癌和卵巢癌综合征占所有乳腺癌的 5-6%。两种乳腺癌易感基因 BRCA1 和 BRCA2 的突变导致遗传性乳腺癌和卵巢癌。携带 BRCA1/2 突变的女性通常会进行预防性输卵管卵巢切除术 (RRSO),以预防卵巢癌和乳腺癌。然而,据报道,BRCA1/2 突变患者 RRSO 后会发生腹膜癌。我们遇到了一例在乳腺癌手术后行 RRSO 后发生腹膜癌和腹股沟淋巴结转移的患者。本报告描述了首例日本 BRCA1 突变患者 RRSO 后发生腹膜癌的病例,并对与 BRCA1/2 突变相关的腹膜癌文献进行了回顾。