Unexpected gynecologic neoplasms in patients with proven or suspected BRCA-1 or-2 mutations - Implications for gross examination, cytology, and clinical follow-up
Unexpected gynecologic neoplasms in patients with proven or suspected BRCA-1 or-2 mutations - Implications for gross examination, cytology, and clinical follow-up
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DOI：
10.1097/00000478-200202000-00003
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发表时间：
2002-02-01
影响因子：
5.6
通讯作者：
Garcia, RL
中科院分区：
文献类型：
--
作者：
Agoff, SN;Mendelin, JE;Garcia, RL
与恶性肿瘤发展相关的遗传性突变的鉴定导致了切除危险组织的预防性手术。我们报告了七名具有乳腺癌和/或卵巢癌家族史的无关患者，其中五人接受了预防性输卵管卵巢切除术和子宫切除术。其中四人已被证实有 BRCA-1 或 -2 突变。在两名患者的腹腔冲洗液中意外发现恶性细胞，导致早期输卵管癌的发现。在我们机构改变取样技术后，又发现了两例意外的输卵管原位癌病例。另一名患者有显着的家族史，因子宫肌瘤接受了子宫切除术，导致输卵管癌的发现。另一名携带 BRCA-1 突变的患者出乎意料地患上了广泛的腹膜原发性乳头状浆液性腺癌。最后一名患者患有边缘性恶性透明细胞腺纤维瘤。这些病例强调了腹膜细胞学检查和彻底取样在治疗有乳腺癌/卵巢癌家族史和/或已知 BRCA-1/BRCA-2 突变且接受子宫切除术的患者中的重要性。由于分子诊断的进步，预防性手术变得越来越普遍，病理学家需要意识到，这些患者的手术标本可能需要更严格的检查才能发现早期肿瘤变化。
Identification of inheritable mutations associated with the development of malignancy has led to prophylactic surgeries to remove tissues at risk. We report seven unrelated patients with family histories of breast and/or ovarian cancer, five of whom underwent prophylactic salpingo-oophorectomy with hysterectomy. Four had proven BRCA-1 or -2 mutations. Malignant cells were found unexpectedly in the peritoneal washings of two patients, leading to the discovery of early-stage fallopian tube carcinoma. After changing the sampling technique at our institution, two more cases of unexpected fallopian tube carcinoma in situ were discovered. Another patient had a significant family history and underwent hysterectomy for uterine fibroids, leading to the discovery of fallopian tube carcinoma. Another patient with BRCA-1 mutation had unexpected widespread primary peritoneal papillary serous adenocarcinoma. The final patient had a borderline malignant clear cell adenofibroma. These cases underscore the importance of peritoneal cytology and thorough sampling in the management of patients undergoing hysterectomy with a family history of breast/ovarian cancer and/or known BRCA-1/BRCA-2 mutations. As prophylactic surgeries are becoming more common secondary to advances in molecular diagnostics, pathologists need to be aware that surgical specimens from these patients may require more rigorous examination to uncover early neoplastic changes.