Department of Obstetrics & Gynecology, University of Washington Medical Center, United States of America.
Division of Gynecologic Oncology, Department of Obstetrics & Gynecology, University of Washington Medical Center, United States of America.
Gynecol Oncol. 2020 May;157(2):514-520. doi: 10.1016/j.ygyno.2020.02.006. Epub 2020 Mar 19.
Risk-reducing salpingo-oophorectomy (RRSO) is recommended for women at increased risk of ovarian, fallopian tube (FT), and peritoneal carcinoma (collectively OC). We describe rates of occult neoplasia in the largest single-institution prospective cohort of women undergoing RRSO, including those with mutations in non-BRCA homologous repair (HRR) genes.
Participants undergoing RRSO enrolled in a prospective tissue bank between 1999 and 2017. Ovaries and FTs were serially sectioned in all cases. Participants had OC susceptibility gene mutations or a family history suggesting OC risk. Analyses were completed in Stata IC 15.1.
Of 644 women, 194 (30.1%) had mutations in BRCA1, 177 (27.5%) BRCA2, 27 (4.2%) other HRR genes, and 15 (2.3%) Lynch Syndrome-associated genes. Seventeen (2.6%) had occult neoplasms at RRSO, 15/17 (88.2%) in the FT. Of BRCA1 carriers, 14/194 (7.2%) had occult neoplasia, 8/194 (4.1%) invasive. One PALB2 and two BRCA2 carriers had intraepithelial FT neoplasms. Occult neoplasm occurred more frequently in BRCA1/2 carriers ≥45 years of age (6.5% vs 2.2%, chi square, p = .04), and 211/371 (56.9%) BRCA1/2 carriers had surgery after guideline-recommended ages. Four in 8 (50%) invasive and 2/9 (22%) intraepithelial neoplasms had positive pelvic washings. None with intraepithelial neoplasms developed recurrence or peritoneal carcinoma.
BRCA1 carriers have the highest risk of occult neoplasia at RRSO, and the frequency increased with age. Women with BRCA1/2 mutations often have RRSO beyond recommended ages. One PALB2 carrier had FT intraepithelial neoplasia, a novel finding. Serial sectioning is critical to identifying occult neoplasia and should be performed for all risk-reducing surgeries.
降低风险的输卵管卵巢切除术（RRSO）推荐用于患有卵巢、输卵管（FT）和腹膜癌（统称为 OC）风险增加的女性。我们描述了在最大的单机构前瞻性队列中接受 RRSO 的女性中隐匿性肿瘤的发生率，包括那些具有非 BRCA 同源修复（HRR）基因突变的女性。
1999 年至 2017 年期间，参与者在一项前瞻性组织库中接受 RRSO。所有病例均对卵巢和 FT 进行连续切片。参与者具有 OC 易感性基因突变或提示 OC 风险的家族史。分析在 Stata IC 15.1 中完成。
在 644 名女性中，194 名（30.1%）有 BRCA1 基因突变，177 名（27.5%）有 BRCA2 基因突变，27 名（4.2%）有其他 HRR 基因突变，15 名（2.3%）有 Lynch 综合征相关基因突变。17 名（2.6%）在 RRSO 时发现隐匿性肿瘤，17/17（88.2%）在 FT 中。BRCA1 携带者中有 14/194（7.2%）发生隐匿性肿瘤，194/194（4.1%）为浸润性。1 名 PALB2 和 2 名 BRCA2 携带者有输卵管上皮内肿瘤。BRCA1/2 携带者≥45 岁时隐匿性肿瘤更常见（6.5%比 2.2%，卡方，p=0.04），211/371（56.9%）BRCA1/2 携带者的手术年龄超过了指南推荐的年龄。4/8（50%）的浸润性肿瘤和 2/9（22%）的上皮内肿瘤有阳性盆腔冲洗液。无上皮内肿瘤发生复发或腹膜癌。
BRCA1 携带者 RRSO 时发生隐匿性肿瘤的风险最高，且随年龄增加而增加。BRCA1/2 基因突变的女性经常在推荐年龄后进行 RRSO。1 名 PALB2 携带者有输卵管上皮内肿瘤，这是一个新发现。连续切片对于识别隐匿性肿瘤至关重要，应在所有降低风险的手术中进行。
