Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations
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DOI：
10.1016/j.ygyno.2013.12.009
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发表时间：
2014-02-01
影响因子：
4.7
通讯作者：
Feltmate, Colleen
中科院分区：
文献类型：
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作者：
Conner, James R.;Meserve, Emily;Feltmate, Colleen
目标。本研究计算了携带生殖系BRCA1或BRCA2突变（BRCA(m+)）的女性发生临床无症状附件瘤的风险，并确定了复发风险。我们分析了349名BRCA（m+）女性通过SEE-FIM方案进行的输卵管卵巢切除术（RRSOs）的风险降低，并分析了来自三家机构的29例肿瘤的复发率。在一个机构中发现了19例肿瘤（5.4%），BRCA1突变阳性女性占9.2%，BRCA2突变阳性女性占3.4%。14例为高级别输卵管上皮内肿瘤（HGTIN, 74%）。平均年龄（54.4）高于无瘤变BRCA（m+）队列（47.8），且频率随年龄增加而增加（p < 0.001）。29例BRCA（m+）肿瘤患者来自三个机构，随访时间中位数为5年（1-8年）。单独使用HGTIN的11人中有1人（9%）在4年复发，而18人中有3人（16.7%）侵袭或累及其他部位。除两人外，其余人目前都还活着。在3家机构队列的29例患者中，HGTIN和晚期疾病的平均年龄分别为49.2岁和57.7岁（p = 0.027）。5-6%的rrso存在附件瘤变，在BRCA1突变的女性中更为常见，单独携带HGTIN的女性复发率为9%。从诊断出HGTIN到盆腔复发的时间滞后（4年），以及HGTIN与晚期疾病的平均年龄差异（8.5年）表明，从HGTIN发病到盆腔癌发展有几年的间隔。然而，一些肿瘤在缺乏HGTIN的情况下发生。(C) 2013爱思唯尔公司版权所有。
Objective. This study computed the risk of clinically silent adnexal neoplasia in women with germ-line BRCA1 or BRCA2 mutations (BRCA(m+)) and determined recurrence risk.Methods. We analyzed risk reduction salpingo-oophorectomies (RRSOs) from 349 BRCA(m+) women processed by the SEE-FIM protocol and addressed recurrence rates for 29 neoplasms from three institutions.Results. Nineteen neoplasms (5.4%) were identified at one institution, 9.2% of BRCA1 and 3.4% of BRCA2 mutation-positive women. Fourteen had a high-grade tubal intraepithelial neoplasm (HGTIN, 74%). Mean age (54.4) was higher than the BRCA(m+) cohort without neoplasia (47.8) and frequency increased with age (p < 0.001). Twenty-nine BRCA(m+) patients with neoplasia from three institutions were followed for a median of 5 years (1-8 years.). One of 11 with HGTIN alone (9%) recurred at 4 years, in contrast to 3 of 18 with invasion or involvement of other sites (16.7%). All but two are currently alive. Among the 29 patients in the three institution cohort, mean ages for HGTIN and advanced disease were 49.2 and 57.7 (p = 0.027).Conclusions. Adnexal neoplasia is present in 5-6% of RRSOs, is more common in women with BRCA1 mutations, and recurs in 9% of women with HGTIN alone. The lag in time from diagnosis of the HGTIN to pelvic recurrence (4 years) and differences in mean age between HGTIN and advanced disease (8.5 years) suggest an interval of several years from the onset of HGTIN until pelvic cancer develops. However, some neoplasms occur in the absence of HGTIN. (C) 2013 Elsevier Inc. All rights reserved.