Department of General Surgery and Medical-Surgical Specialties, Institute of Obstetrics and Gynecology, A.O.U. Policlinico Rodolico, San Marco, University of Catania, 95125 Catania, Italy.
Department of Woman and Child Health and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Medicina (Kaunas). 2023 Feb 6;59(2):300. doi: 10.3390/medicina59020300.
Hereditary women's syndromes due to inherited mutations result in an elevated risk of developing gynecological cancers over the lifetime of affected carriers. The BRCA 1 and 2 mutations, Lynch syndrome (LS), and mutations in rare hereditary syndromes increase this risk and require more effective management of these patients based on surveillance and prophylactic surgery. Patients need counseling regarding risk-reducing surgery (RRS) and the time required to perform it, considering the adverse effects of premenopausal surgery and the hormonal effect on quality of life, bone density, sexual activity, and cardiological and vascular diseases. Risk-reducing salpingo-oophorectomy (RRSO) is the gold standard for BRCA-mutated patients. An open question is that of endometrial cancer (EC) risk in patients with BRCA1/2 mutation to justify prophylactic hysterectomy during RRSO surgical procedures. RRS provides a 90-95% risk reduction for ovarian and breast cancer in women who are mutation carriers, but the role of prophylactic hysterectomy is underinvestigated in this setting of patients. In this review, we evaluate the management of the most common hereditary syndromes and the benefits of risk-reducing surgery, particularly exploring the role of prophylactic hysterectomy.
遗传性女性综合征由遗传突变引起，会增加携带者一生中患妇科癌症的风险。BRCA1 和 2 突变、林奇综合征（LS）以及罕见遗传性综合征的突变会增加这种风险，需要根据监测和预防性手术对这些患者进行更有效的管理。需要就预防性手术（RRS）和进行手术所需的时间向患者提供咨询，考虑到预防性手术对绝经前患者的不利影响以及激素对生活质量、骨密度、性行为和心血管疾病的影响。对于 BRCA 突变患者，输卵管卵巢切除术（RRSO）是金标准。一个悬而未决的问题是 BRCA1/2 突变患者的子宫内膜癌（EC）风险，这是否需要在 RRSO 手术期间预防性子宫切除术。对于携带突变的女性，RRS 可将卵巢癌和乳腺癌的风险降低 90-95%，但在这种情况下，预防性子宫切除术的作用尚未得到充分研究。在这篇综述中，我们评估了最常见遗传性综合征的管理以及预防性手术的益处，特别是探讨了预防性子宫切除术的作用。
