Nair Navya, Schwartz Melissa, Guzzardi Lisa, Durlester Nicki, Pan Stephanie, Overbey Jessica, Chuang Linus
Department of Obstetrics, Gynecology, and Reproductive Services, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
BRCA Advanced 101 & 102 Journal Club, New York, NY, USA.
Gynecol Oncol Rep. 2018 Oct 6;26:71-74. doi: 10.1016/j.gore.2018.10.003. eCollection 2018 Nov.
In this study, women at risk for BRCA were surveyed to understand their choice of prophylactic surgery and associated risk of uterine cancers. The study was conducted as an anonymous online web-based survey that assessed personal and family histories and choice of prophylactic surgery. Respondents were targeted through social media groups that bring awareness to hereditary breast and ovarian cancer. The study cohort included an international group of 601 respondents. The majority were female (99.3%), in their 40s (34.2%), and had completed college or graduate school (68.8%). 87% of respondents carry BRCA gene mutation. Of 339 respondents who underwent risk-reducing salpingo-oophorectomy (RRSO), 55.8% had a hysterectomy at time of RRSO. Most common reasons for hysterectomy at time of RRSO included: 39% provider recommendation, 27.6% personal desire, 9.7% benign indications, 1.6% cancer in uterus, 1.1% precancerous uterine lesion, and 21.1% other (N = 185). In this cohort, nine were diagnosed with uterine cancer. Three were diagnosed after risk-reducing surgery. Both patients with uterine serous carcinoma were BRCA1 carriers. Two thirds of BRCA carriers surveyed had undergone RRSO. Of these, more than half had hysterectomy at time of RRSO. One third chose to have hysterectomy based on surgeon recommendation. <1% (2 out of 258) of BRCA1 gene mutation carriers reported being diagnosed with uterine serous carcinomas. While this incidence is low, it may be an underestimate based on the limitations of this study. Additional studies are needed to select which patients will benefit from concurrent hysterectomy and RRSO.
在本研究中,对有BRCA风险的女性进行了调查,以了解她们对预防性手术的选择以及子宫癌的相关风险。该研究以匿名在线网络调查的形式进行,评估个人和家族病史以及预防性手术的选择。通过提高对遗传性乳腺癌和卵巢癌认识的社交媒体群组来确定受访者。研究队列包括601名来自国际的受访者。大多数为女性(99.3%),年龄在40多岁(34.2%),且已完成大学或研究生学业(68.8%)。87%的受访者携带BRCA基因突变。在339名接受了降低风险的输卵管卵巢切除术(RRSO)的受访者中,55.8%在RRSO时进行了子宫切除术。RRSO时进行子宫切除术的最常见原因包括:39%是医生建议,27.6%是个人意愿,9.7%是良性指征,1.6%是子宫癌症,1.1%是子宫癌前病变,21.1%是其他原因(N = 185)。在这个队列中,有9人被诊断出患有子宫癌。3人在降低风险手术后被诊断出。两名子宫浆液性癌患者均为BRCA1携带者。接受调查的BRCA携带者中有三分之二接受了RRSO。其中,超过一半在RRSO时进行了子宫切除术。三分之一的人根据外科医生的建议选择进行子宫切除术。BRCA1基因突变携带者中<1%(258人中的2人)报告被诊断出患有子宫浆液性癌。虽然这个发病率很低,但基于本研究的局限性,可能存在低估。需要进一步的研究来确定哪些患者将从同期子宫切除术和RRSO中获益。