The identification of germ-line mutations in 2 genes (BRCA1 and BRCA2) responsible for the majority of hereditary ovarian cancers has led an increasing number of women carriers of these mutations to undergo prophylactic oophorectomy (PO) to reduce their risk of subsequent ovarian carcinoma. A large number of unexpected, clinically occult neoplasms are thus being discovered. Up to December 2004, the Medical Genetics Service of the National Cancer Institute in Milan, Italy, has tested 756 probands from breast and/or ovarian cancer families for BRCA1 and BRCA2 germ-line mutations. Molecular screening of family members led to the identification of 344 female carriers of BRCA1 (239) or BRCA2 (105) germ-line mutations. Of the 186 potentially eligible women (37 of whom had tested positive for BRCA1 and 13 for BRCA2 mutation), 50 (26.8%) chose to undergo PO. Six clinically occult primary gynecologic malignancies (2 stage IIIC serous carcinomas of the ovary, 3 in situ serous carcinomas of the fallopian tube, and 1 stage IIB invasive serous carcinoma of the fallopian tube) and 1 occult ovarian metastasis from breast carcinoma were identified in the PO specimens of 7 women (all BRCA1 mutated). Four of the patients with occult primary gynecologic cancers are alive without disease 129, 87, 38, and 7 months after PO, respectively. One of the 2 patients with primary ovarian cancer and the single patient with tubal invasive carcinoma are alive with recurrent disease 83 and 20 months after PO, respectively. In addition, one of the patients whose PO specimen did not show any malignancy presented with stage IIIC tubal carcinoma 77 months after PO. The relatively high number of tubal neoplasms found at PO in this group of patients underlines the linkage between mutation and the risk of developing tubal cancer, and stresses the need to include removal of the entire tubes at the time of PO and of thoroughly evaluating the specimens at the microscopic level. The upstaging of all 3 invasive carcinomas after staging surgery, and the late recurrence and persistence of 2 of them despite treatment indicate that small size of the tumors should not preclude therapy.

译文

:对负责大多数遗传性卵巢癌的2个基因(BRCA1和BRCA2)的种系突变的鉴定已导致越来越多的女性携带这些突变的女性进行预防性卵巢切除术(PO),以降低其患上卵巢癌的风险。因此,发现了大量意想不到的临床隐匿性肿瘤。截至2004年12月,意大利米兰国家癌症研究所的医学遗传学服务已对756个来自乳腺癌和/或卵巢癌家族的先证者进行了BRCA1和BRCA2种系突变测试。家庭成员的分子筛查导致鉴定出344例BRCA1(239)或BRCA2(105)种系突变的女性携带者。在186名可能符合条件的妇女中(其中37人的BRCA1测试呈阳性,13人的BRCA2突变检测为阳性),其中50人(26.8%)选择接受PO。在临床中确定了6例临床隐匿的原发性妇科恶性肿瘤(2例卵巢IIIC浆液性癌,3例输卵管原位浆液性癌和1例IIB输卵管浸润性浆液性癌)和1例隐匿性卵巢癌卵巢转移。 7名妇女的PO标本(所有BRCA1突变)。分别在PO后129、87、38和7个月,有四名患有隐匿性原发性妇科癌症的患者还活着而没有疾病。 2例原发性卵巢癌患者中的1例和输卵管浸润性癌的单例患者在PO后分别存活83个月和20个月。此外,其中一名PO标本未显示任何恶性肿瘤的患者在PO后77个月出现IIIC期输卵管癌。该组患者在PO中发现的相对较多的输卵管肿瘤强调了突变与发生输卵管癌的风险之间的联系,并强调需要在PO时切除整个管并彻底评估标本在微观层面上。分期手术后所有3种浸润性癌的分期升级,并且尽管有治疗,但其中2种仍较晚复发和持续存在,这表明较小的肿瘤不应排除治疗的可能性。

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