A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution.

IF 2.8 4区 医学 Q3 ONCOLOGY
Yusaku Shimizu, Miho Kitai, Masashi Akada, Michihide Maeda, Eri Yamabe, Reisa Kakubari, Tsuyoshi Hisa, Shoji Kamiura
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Abstract

Background: Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been established, risk-reducing salpingo-oophorectomy (RRSO) is recommended for patients with HBOC to prevent disease onset. We evaluated the clinical characteristics of patients with HBOC and the surgical outcomes of RRSO performed at our institution.

Methods: We retrospectively reviewed women diagnosed with HBOC at our institution between 2018 and 2024. For analyses of surgical outcomes, male patients, patients with prior bilateral adnexectomy, and patients diagnosed with HBOC who did not undergo RRSO were excluded. Clinical data including patient characteristics, surgical procedures, genetic testing, and pathological findings were assessed.

Results: A total of 283 women were diagnosed with HBOC, and 43 (15.1%) underwent testing based on the results of affected relatives. After excluding 39 patients with prior bilateral adnexectomy, and 105 who did not undergo RRSO, 139 patients were included in the surgical analysis. The uptake rate of RRSO among female patients with HBOC was 57%. The median age at surgery was 50 years (range, 35-75). Pathogenic BRCA1 variants were identified in 48 patients (34.5%), BRCA2 variants in 90 (64.7%), and both BRCA1 and BRCA2 variants in 1 (0.7%). A history of malignancy was observed in 121 patients (breast cancer, n = 121; pancreatic cancer, n = 1; ovarian cancer, n = 1; others, n = 3). Laparoscopic RRSO was performed in 138 cases, with one additional hysterectomy performed laparoscopically and one via laparotomy. No perioperative complications were observed. All 6 cases before April 2020 were performed outside insurance coverage; after insurance coverage was initiated in April 2020, 16 were non-covered and 117 were covered by insurance. Pathological examination revealed occult high-grade serous carcinoma in 4 patients (2.9%) and serous tubal intraepithelial carcinoma in 5 patients (3.6%). To date, no cases of primary peritoneal carcinoma following RRSO have been identified.

Conclusions: RRSO was performed safely at our institution, with the detection rate of intraepithelial and invasive carcinoma comparable to previous reports. Although no cases of primary peritoneal carcinoma have been observed postoperatively to date, the residual risk remains, indicating the need for continued long-term surveillance.

回顾性分析在本院诊断为遗传性乳腺癌和卵巢癌的妇女行输卵管卵巢切除术的风险降低。
背景:遗传性乳腺癌和卵巢癌(HBOC)可显著增加乳腺癌和卵巢癌的终生风险。由于尚未建立有效的卵巢癌早期监测方法,建议HBOC患者行降低风险的输卵管卵巢切除术(RRSO),以预防疾病的发生。我们评估了HBOC患者的临床特征和在我院进行的RRSO手术结果。方法:我们回顾性分析了2018年至2024年在我院诊断为HBOC的女性。对于手术结果的分析,排除了男性患者、既往双侧附件切除术患者和未接受RRSO的诊断为HBOC的患者。临床资料包括患者特征、外科手术、基因检测和病理结果。结果:共有283名妇女被诊断为HBOC,其中43名(15.1%)接受了基于受影响亲属结果的检测。在排除了39例既往双侧附件切除术患者和105例未行RRSO的患者后,139例患者被纳入手术分析。女性HBOC患者中RRSO的摄取率为57%。手术时的中位年龄为50岁(范围35-75岁)。48例(34.5%)患者发现致病性BRCA1变异,90例(64.7%)患者发现BRCA2变异,1例(0.7%)患者同时发现BRCA1和BRCA2变异。121例患者有恶性肿瘤病史(乳腺癌121例,胰腺癌1例,卵巢癌1例,其他3例)。138例患者行腹腔镜下子宫切除术,其中1例在腹腔镜下行子宫切除术,1例经剖腹手术。无围手术期并发症。2020年4月前的6例病例均在保险范围外进行;在2020年4月启动保险覆盖后,16人未被保险覆盖,117人被保险覆盖。病理检查发现隐匿性高级别浆液性癌4例(2.9%),浆液性输卵管上皮内癌5例(3.6%)。到目前为止,还没有发现RRSO后的原发性腹膜癌病例。结论:我们的机构安全地进行了RRSO,上皮内癌和浸润性癌的检出率与之前的报道相当。虽然到目前为止还没有观察到术后原发性腹膜癌的病例,但残余风险仍然存在,表明需要继续进行长期监测。
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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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