Occult ovarian tumors in women with BRCA1 or BRCA2 mutations undergoing prophylactic oophorectomy
Occult ovarian tumors in women with BRCA1 or BRCA2 mutations undergoing prophylactic oophorectomy
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DOI：
10.1200/jco.2000.18.14.2728
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发表时间：
2000-07-01
影响因子：
45.3
通讯作者：
Muto, MG
中科院分区：
文献类型：
--
作者：
Lu, KH;Garber, JE;Muto, MG
目的：回顾一系列在家族性乳腺癌和卵巢癌诊所就诊的女性进行预防性卵巢切除术的结果。材料和方法：收集了因卵巢癌风险升高而接受预防性卵巢切除术的女性的病历、手术记录和病理报告数据。由于只有一部分患者接受了 BRCA1 和 BRCA2 检测，因此使用 Berry-Parmigiani 模型和家族史数据计算每位患者的遗传易感性风险。结果：从 1989 年 6 月到 1998 年 12 月，在我们诊所就诊的 50 名女性接受了预防性卵巢切除术，其中 33 名经计算携带种系 BRCA1 或 BRCA2 突变的风险大于 25%，在该组中，有 4 名偶发肿瘤被发现（33 个中的 4 个，即 12%）；手术时发现一个肿瘤，仅在最终病理学中发现三个肿瘤。两名患者双侧卵巢多个部位均存在微小的低分化浆液性腺癌。第三名患者患有具有微乳头状特征的双侧浆液性交界性肿瘤，第四名患者患有显微镜下浆液性交界性卵巢肿瘤。所有 4 名患者均存在种系 BRCA1 或 BRCA2 突变，其中 3 名患者在预防性手术前 6 个月内进行了不明显的经阴道超声检查。结论：在卵巢癌高危女性中进行预防性卵巢切除术时，恶性肿瘤病灶并不罕见，并且超声检查可能无法检测到。外科医生在进行预防性手术时应高度怀疑在这些女性中发现癌症，并对标本进行仔细的病理评估。 (C) 2000 年美国临床肿瘤学会。
Purpose: to review the findings at prophylactic oophorectomy of a series of women who presented to a familial breast and ovarian cancer clinic.Materials and Methods: Data from medical charts, operative notes, and pathology reports were collected on women who had undergone prophylactic oophorectomies because of the elevated risk of ovarian cancer. Because only a subset of patients underwent BRCA1 and BRCA2 testing, each patient's risk of hereditary predisposition was calculated using the Berry-Parmigiani model and family history data.Results: From June 1989 to December 1998, 50 women seen at our clinic underwent prophylactic oophorectomy, 33 of whom had a calculated risk of carrying a germline BRCA1 or BRCA2 mutation greater than 25%, Among this group, four incidental tumors were found (four of 33, or 12%); one tumor was noted at the time of surgery and three were noted only in the final pathology. Two patients had microscopic, poorly differentiated serous adenocarcinomas in multiple sites on both ovaries. A third patient had a bilateral serous borderline tumor with micropapillary features, The fourth patient had a microscopic serous borderline ovarian tumor. All four patients had germline BRCA1 or BRCA2 mutations, and three had unremarkable transvaginal ultrasonagraphy examinations within 6 months before prophylactic surgery.Conclusion: Foci of malignant tumor are not uncommon in prophylactic oophorectomies performed in women at very high risk for ovarian cancer and may not be detected on ultrasonograms. Surgeons should have a high suspicion of finding cancer in these women at the time of prophylactic surgery, and careful pathologic assessment of the specimens should be conducted. (C) 2000 by American Society of Clinical Oncology.