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预防性降低风险的输卵管卵巢切除术在 BRCA 基因突变携带者中的应用:意大利北部地区的情况如何?

Prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers: what is going on in a region of northern Italy?

机构信息

Hereditary Breast-Ovarian Cancer Group, University of Modena and Reggio Emilia, Azienda Ospedaliero Universitaria Policlinico, Via del Pozzo 71, 41124, Modena, Italy.

Gynecologic Oncology Unit, University of Bologna, Policlinico S.Orsola-Malpighi, Via Masserenti 13, 40138, Bologna, Italy.

出版信息

Maturitas. 2021 Jan;143:59-64. doi: 10.1016/j.maturitas.2020.08.011. Epub 2020 Aug 31.


DOI:10.1016/j.maturitas.2020.08.011
PMID:33308637
Abstract

BACKGROUND: BRCA1 mutation carriers are recommended to undergo prophylactic risk-reducing salpingo-oophorectomy (RRSO) between the ages of 35 and 40 or when child bearing is complete, with a possible delay until age 40-45 for BRCA2 mutation carriers. STUDY QUESTION: Primary outcome was the rate of unsuspected cancer findings during RRSO in a region of northern Italy (Emilia Romagna) and secondary outcomes were details of RRSO: age at surgical intervention, the venue of the procedures in relation to the surgical/pathological quality and the rate/role of concomitant opportunistic hysterectomies. STUDY DESIGN: Multicentre data collection by invitation to report current RRSO practices. RESULTS: A total of 222 RRSOs (54.5 % BRCA1, 34.7 % BRCA2, 1.8 % BRCA1 and BRCA2 combined, 5.8 % BRCA-VUS and 3.2 % BRCA not better specified) were reported from 9 different centres, half in non-university hospitals and the remainder in university hospitals. Breast cancer survivors (56.3 %) underwent the RRSO at a younger age (47.8 vs 50.6 years, p =  0.02). The mean and median ages at surgical intervention (49.0 and 48.0, respectively) were similar for BRCA1 and BRCA2 mutation carriers, as was the temporal trend in age distribution, and proportions treated in university and non-university hospitals. A diagnosis of ovarian invasive cancer was reported in 3.5 % of subjects, all BRCA1 or BRCA-combined subjects, at a median and mean age of 57 years (range 42-68). Abnormal tubal findings, such as serous tubal intraepithelial lesions (STIL) (100 %), secretory cell outgrowth (SCOUT) (100 %) and STIC (71.4 %), were mainly reported by pathologists in university hospitals. Of the 222 procedures, 15 (6.7 %) included hysterectomies: in none of these cases was a primitive uterine endometrioid or serous cancer found. CONCLUSIONS: The results from this multicentre regional study should guide future preventive health policies for RRSO in BRCA mutation carriers.

摘要

背景:BRCA1 突变携带者建议在 35 至 40 岁或完成生育后进行预防性降低风险的输卵管卵巢切除术(RRSO),BRCA2 突变携带者可能延迟至 40-45 岁。 研究问题:主要结局是意大利北部艾米利亚-罗马涅地区 RRSO 中未发现癌症的发生率,次要结局是 RRSO 的详细信息:手术干预时的年龄、手术/病理质量相关的手术地点以及同时行机会性子宫切除术的比率/作用。 研究设计:通过邀请报告当前 RRSO 实践情况进行多中心数据收集。 结果:来自 9 个不同中心共报告了 222 例 RRSO(54.5%为 BRCA1,34.7%为 BRCA2,1.8%为 BRCA1 和 BRCA2 合并,5.8%为 BRCA-VUS,3.2%为 BRCA 未明确),其中一半在非大学医院,其余在大学医院。乳腺癌幸存者(56.3%)进行 RRSO 的年龄更小(47.8 岁比 50.6 岁,p=0.02)。BRCA1 和 BRCA2 突变携带者的手术干预平均和中位年龄(分别为 49.0 和 48.0)相似,年龄分布的时间趋势以及在大学和非大学医院治疗的比例也相似。3.5%的患者(均为 BRCA1 或 BRCA 合并)诊断为卵巢浸润性癌,中位年龄和平均年龄为 57 岁(范围为 42-68)。主要由大学医院的病理学家报告了异常的输卵管发现,如浆液性输卵管上皮内病变(STIL)(100%)、分泌细胞外生(SCOUT)(100%)和 STIC(71.4%)。222 例手术中有 15 例(6.7%)包括子宫切除术:在这些病例中均未发现原发性子宫内膜样或浆液性子宫癌。 结论:这项多中心区域性研究的结果应指导 BRCA 突变携带者 RRSO 的未来预防保健政策。

相似文献

[1]
Prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers: what is going on in a region of northern Italy?

Maturitas. 2021-1

[2]
Satisfaction with prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers is very high and little dependent on the participants' characteristics at surgery: a prospective study.

Menopause. 2021-2-1

[3]
Clinical significance of risk-reducing salpingo-oophorectomy in patients with BRCA1/2 mutation.

J Gynecol Obstet Hum Reprod. 2023-10

[4]
Precision prophylaxis: Identifying the optimal timing for risk-reducing salpingo-oophorectomy based on type of BRCA1 and BRCA2 cluster region mutations.

Gynecol Oncol. 2020-1-7

[5]
Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers.

J Gynecol Oncol. 2017-1

[6]
Association of Risk-Reducing Salpingo-Oophorectomy With Breast Cancer Risk in Women With BRCA1 and BRCA2 Pathogenic Variants.

JAMA Oncol. 2021-4-1

[7]
Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up.

Gynecol Oncol. 2019-3-18

[8]
Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations.

Cochrane Database Syst Rev. 2018-8-24

[9]
Efficacy of risk-reducing salpingo-oophorectomy in BRCA1-2 variants and clinical outcomes of follow-up in patients with isolated serous tubal intraepithelial carcinoma (STIC).

Gynecol Oncol. 2021-11

[10]
Uptake Rate of Risk-Reducing Salpingo-Oophorectomy and Surgical Outcomes of Female Germline Mutation Carriers: A Retrospective Cohort Study.

Yonsei Med J. 2021-12

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