Icahn School of Medicine at the Mount Sinai Department of Obstetrics, Gynecology, and Reproductive Science, New York, NY, USA.
Icahn School of Medicine at the Mount Sinai Department of Obstetrics, Gynecology, and Reproductive Science, New York, NY, USA.
Gynecol Oncol. 2024 Jul;186:176-181. doi: 10.1016/j.ygyno.2024.03.025. Epub 2024 May 1.
Fertility-related concerns cause significant anxiety among patients with Hereditary Breast and Ovarian Cancer Syndrome (HBOC). The Society of Gynecologic Oncology and the American Society for Reproductive Medicine recommend patients diagnosed with HBOC receive early referral to a reproductive endocrinologist. However, evidence about fertility trends in this patient population are limited and guidelines are scarce. The aim of this study is to compare fertility preservation among patients with HBOC to control patients undergoing fertility treatment without a diagnosis of infertility.
This retrospective study included patients who presented to a single academic institution for fertility preservation in the setting of diagnosis of HBOC. In this study, HBOC patients are referred to as those who had tested positive for pathogenic mutations in BRCA1, BRCA2 or were at high-risk for HBOC based on a strong family history (defined as >3 family members diagnosed with HBOC) without a genetic mutation. HBOC patients were matched in a 1:1 fashion to a control group undergoing fertility preservation without a diagnosis of infertility or HBOC. All analysis was done using SPSS version 9.4 (SAS Institute, Cary, NC).
Between August 1st, 2016 and August 1st, 2022, 81 patients presented to the study center for consultation in the setting of HBOC. Of those who presented, 48 (59.2%) ultimately underwent oocyte cryopreservation and 33 (40.7%) underwent embryo cryopreservation. Patients who underwent oocyte cryopreservation due to BRCA1 status were more likely to present for fertility consultation at a younger age compared to control patients (32.6 vs. 34.7 years, p = 0.03) and were more likely to undergo oocyte cryopreservation at a younger age (32.1 vs. 34.6 years, p = 0.007). There was no difference in age at initial consultation or age at procedure for patients with BRCA2 or patients with a strong family history compared to control patients (p > 0.05). There was no difference in the mean age of patients with HBOC at presentation for consultation for embryo cryopreservation or the mean age the patient with HBOC underwent embryo cryopreservation compared to control patients (p > 0.05). Patients with BRCA1 or BRCA2 did not have expedited time from consultation to first cycle start (p > 0.05). After adjusting for factors including anti-Müllerian hormone (AMH) level and age, patients considered in the HBOC group due to family history had less time between consultation and oocyte cryopreservation cycle compared to control patients. (179 vs. 317 days, p = 0.045). There was no difference in time from consultation to starting cycle for embryo cryopreservation for patients with HBOC compared to controls (p > 0.05).
Patients with HBOC did not undergo expedited fertility treatment compared to control patients undergoing oocyte and embryo cryopreservation for non-infertility reasons. Patients diagnosed with BRCA1 had more oocytes retrieved compared to the control population which is possibly due to earlier age of presentation in the setting of recommended age of risk reducing surgery being age 35-40. When age matched, cycle outcomes did not differ between HBOC and control patients. Given the known cancer prevention benefit and recommendations for risk-reducing surgery, future studies should focus on guidelines for fertility preservation for patients with HBOC.
遗传性乳腺癌和卵巢癌综合征（HBOC）患者的生育相关问题会引起严重焦虑。妇科肿瘤学协会和美国生殖医学学会建议诊断为 HBOC 的患者尽早转介给生殖内分泌学家。然而，关于该患者人群的生育趋势的证据有限，且指南稀缺。本研究旨在比较 HBOC 患者与接受不孕治疗的对照患者的生育保护情况。
本回顾性研究纳入了在一家学术机构就诊的 81 名患者，他们在诊断为 HBOC 的情况下进行生育保护。在本研究中，HBOC 患者是指通过 BRCA1、BRCA2 检测到致病性突变或基于强烈的家族史（定义为>3 名家庭成员被诊断为 HBOC 但无基因突变）被认为具有 HBOC 高风险的患者。HBOC 患者与因非不孕或 HBOC 而接受生育保护的对照患者以 1:1 的比例进行匹配。所有分析均使用 SPSS 版本 9.4（SAS Institute，Cary，NC）进行。
在 2016 年 8 月 1 日至 2022 年 8 月 1 日期间，81 名患者因 HBOC 就诊于研究中心进行咨询。在就诊的患者中，48 名（59.2%）最终接受了卵母细胞冷冻保存，33 名（40.7%）接受了胚胎冷冻保存。与对照患者相比，因 BRCA1 状态而接受卵母细胞冷冻保存的患者更可能在年轻年龄就诊（32.6 岁 vs. 34.7 岁，p=0.03），且更可能在年轻年龄接受卵母细胞冷冻保存（32.1 岁 vs. 34.6 岁，p=0.007）。与对照患者相比，BRCA2 患者或有强烈家族史的患者在首次就诊时的年龄或接受卵母细胞冷冻保存时的年龄均无差异（p>0.05）。HBOC 患者接受胚胎冷冻保存时的就诊年龄或接受胚胎冷冻保存的患者年龄与对照患者相比均无差异（p>0.05）。BRCA1 或 BRCA2 患者从就诊到开始第一周期的时间没有加快（p>0.05）。在调整了抗苗勒管激素（AMH）水平和年龄等因素后，与对照患者相比，因家族史而被视为 HBOC 组的患者与卵母细胞冷冻保存周期之间的时间间隔更短（179 天 vs. 317 天，p=0.045）。HBOC 患者与对照患者相比，胚胎冷冻保存的起始周期时间无差异（p>0.05）。
与因非不孕原因接受卵母细胞和胚胎冷冻保存的对照患者相比，HBOC 患者没有接受紧急生育治疗。与对照人群相比，诊断为 BRCA1 的患者获得了更多的卵母细胞，这可能是由于在建议的降低风险手术年龄（35-40 岁）就诊时年龄较小所致。当按年龄匹配时，HBOC 患者和对照患者的周期结局无差异。鉴于已知的癌症预防益处和降低风险手术的建议，未来的研究应侧重于制定针对 HBOC 患者的生育保护指南。
