Inzoli Alessandra, Negri Serena, Dell'Oro Cristina, Costa Clarissa, Marchetta Liliana, Boccadutri Mariaclara, Fumagalli Simona, Roversi Gaia, Sala Elena Maria, Celi Chiara, Rossi Valentina, Fruscio Robert
Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy.
Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Cancer Med. 2024 Dec;13(23):e70321. doi: 10.1002/cam4.70321.
Risk-reducing salpingo-oophorectomy (RRSO) is recommended by international guidelines in women with BRCA1/2 germline pathogenic variants (PV) to prevent ovarian cancer. Despite the solid recommendation, women frequently refuse surgery and uptake rates reported in the literature are diverse. This study analyses the uptake rate of RRSO in BRCA 1/2 PV-carriers referred to a specialised referral centre for first counselling and investigate personal factors linked to the decision.
This is a single-centre prospective study of BRCA1/2 PV-carriers referred for the first counselling to IRCCS Fondazione San Gerardo de' Tintori (Monza, Italy) between January 2010 and May 2023. Depending on individual characteristics, women were either proposed RRSO or surveillance, consisting of transvaginal ultrasound and CA125 measurement twice per year according to Regional guidelines. Women within the centre have access to a clinical psychologist, a nutritional consult and treatment of menopausal atrophy with diode vaginal laser. The primary endpoint of the study was the uptake rate of RRSO. The secondary objective was to evaluate the main reasons for refusing surgery.
Among the 287 women included, surgery was proposed to 205 women either at first counselling or during surveillance and was accepted by 197, with an uptake rate of 96.1%. 17.25% of women met the psychologist before or after surgery. The main reasons for refusing RRSO were fear of iatrogenic menopause and childbearing desire.
This study shows a high uptake rate of RRSO in BRCA PV-carriers. We believe that the presence of a dedicated outpatient clinic with a multidisciplinary team contributes decisively to our results. Gynaecologic surveillance, as though not beneficial in terms of oncological prevention, may play a significant role in encouraging women with BRCA PV to opt for risk-reducing surgery.
国际指南建议携带BRCA1/2种系致病变异(PV)的女性进行降低风险的输卵管卵巢切除术(RRSO)以预防卵巢癌。尽管有确凿的建议,但女性经常拒绝手术,文献报道的接受率各不相同。本研究分析了转诊至专门咨询中心进行首次咨询的BRCA 1/2 PV携带者中RRSO的接受率,并调查与该决定相关的个人因素。
这是一项单中心前瞻性研究,研究对象为2010年1月至2023年5月间转诊至IRCCS圣杰拉尔多·德·廷托里基金会(意大利蒙扎)进行首次咨询的BRCA1/2 PV携带者。根据个体特征,向女性提出RRSO或监测建议,监测包括根据地区指南每年进行两次经阴道超声检查和CA125测量。中心内的女性可获得临床心理学家的咨询、营养咨询以及二极管阴道激光治疗绝经后萎缩。该研究的主要终点是RRSO的接受率。次要目标是评估拒绝手术的主要原因。
在纳入的287名女性中,205名女性在首次咨询或监测期间被建议进行手术,其中197名接受了手术,接受率为96.1%。17.25%的女性在手术前或手术后咨询了心理学家。拒绝RRSO的主要原因是害怕医源性绝经和生育愿望。
本研究显示BRCA PV携带者中RRSO的接受率较高。我们认为,拥有多学科团队的专门门诊对我们的结果起到了决定性作用。妇科监测虽然在肿瘤预防方面没有益处,但可能在鼓励携带BRCA PV的女性选择降低风险手术方面发挥重要作用。