Pathologic findings in prophylactic oophorectomy specimens in high-risk women
Pathologic findings in prophylactic oophorectomy specimens in high-risk women
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DOI：
10.1006/gyno.2002.6779
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发表时间：
2002-10-01
影响因子：
4.7
通讯作者：
Paley, P
中科院分区：
文献类型：
--
作者：
Leeper, K;Garcia, R;Paley, P
Objective.为了确定在三级保健中心的高危妇女预防性卵巢切除术标本中显著病理改变的频率。回顾1996年11月至2001年1月间妇科肿瘤门诊的预防性卵巢切除术病例。由妇科恶性肿瘤专业的病理学家采购并审查完整提交的输卵管和卵巢的连续切片。所有患者均接受了遗传咨询，并进行了BRCA 1和BRCA 2基因突变分析或有提示卵巢癌和乳腺癌易感性的家族史。在研究期间，30名有记录的有害BRCA 1或BRCA 2突变或暗示家族史的妇女接受了预防性卵巢切除术。73%的女性接受过基因检测。其中，63.5%携带BRCA 1突变，13.5%为BRCA 2携带者，其余23%为阴性。30名女性中有5名（17%）被发现患有临床上隐匿的恶性肿瘤。5例中有4例仅在组织学检查中确诊。1例患者在腹腔镜检查时有明显的原发性腹膜癌。三名患者被发现患有原发性输卵管恶性肿瘤，两名患者患有原位乳头状浆液性癌，一名患者患有早期浸润性疾病。每一个输卵管肿瘤测量小于1厘米。最后一名患者被诊断为卵巢腺纤维瘤，病灶为低度恶性肿瘤和透明细胞特征。5例患者中3例为已知BRCA 1突变携带者，1例有BRCA 2突变记录，1例尚未进行检测。本研究中隐匿性恶性肿瘤的高检出率表明，在卵巢癌高危女性中，这一发现相对常见。此外，临床上隐匿的肿瘤并不局限于卵巢起源，大多数病例的恶性病灶最大尺寸小于1厘米，在手术时未被发现。这些发现支持以下建议：在这一高危人群中（1）输卵管和卵巢应完整提交，并由具有妇科恶性肿瘤专业知识的病理学家进行连续切片评估;（2）腹腔镜和剖腹手术是首选的手术方式，以便在预防性卵巢切除术时检查腹膜表面，并收集液体进行细胞学评估;（3）尽管输卵管癌在一般人群中很少见，但BRCA 1和BRCA 2突变携带者可能会增加输卵管癌的风险。(C)2002 Elsevier Science（美国）。
Objective. To ascertain the frequency of significant pathologic alterations in prophylactic oophorectomy specimens in high-risk women referred to a tertiary care center.Methods. Surgical cases for prophylactic oophorectomy referred to a gynecologic oncology clinic from November 1996 to January 2001 were reviewed. Serial sections of entirely submitted tubes and ovaries were procured and reviewed by a pathologist with expertise in gynecologic malignancies. All patients had undergone genetic counseling and either underwent mutational analysis of BRCA1 and BRCA2 genes or had family history suggestive for ovarian and breast cancer susceptibility.Results. Thirty women with either a documented deleterious BRCA1 or BRCA2 mutation or a suggestive family history underwent prophylactic oophorectomy during the study period. Seventy-three percent of women had undergone genetic testing. Of those, 63.5% harbored a BRCA1 mutation, 13.5% were BRCA2 carriers, and the remaining 23% tested negative. Five of the 30 women (17%) were found to have clinically occult malignancy. Four of the five were diagnosed only on histologic review. A single patient had grossly apparent primary peritoneal carcinoma at the time of laparoscopy. Three patients were found to have primary fallopian tube malignancy, two with in situ papillary serous carcinoma, and one with early invasive disease. Each of the fallopian tube neoplasms measured less than I cm. The final patient was diagnosed with an ovarian adenofibroma with a focus of low malignant potential neoplasm and clear cell features. Three of the five were known BRCA1 mutation carriers, one had a documented BRCA2 mutation, and one has not yet been tested.Conclusions. The high rate of occult malignancy detected in this series suggests that this finding in women at heightened risk for ovarian cancer is relatively common. Further, clinically occult tumors were not limited to ovarian origin, and the majority of cases harbored malignant foci less than 1 cm in greatest dimension that were not recognized at the time of surgery. These findings support the recommendations that in this high-risk population (1) the fallopian tubes and ovaries should be submitted entirely and be evaluated by a pathologist with expertise in gynecologic malignances in serial sections; (2) laparoscopy and laparotomy are the surgical modalities of choice to allow inspection of the peritoneal surfaces at time of prophylactic oophorectomy and collect fluid for cytologic evaluation; (3) despite the rarity of fallopian tube carcinoma in the general population, BRCA1 and BRCA2 mutation carriers may be at increased risk for tubal cancers. (C) 2002 Elsevier Science (USA).