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韩国 BRCA1/2 突变携带者行预防性输卵管卵巢切除术的病理发现与长期预后。

Pathological findings and long-term prognosis in Korean BRCA1/2 mutation carriers undergoing risk-reducing salpingo-oophorectomy.

机构信息

Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.

Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea

出版信息

Int J Gynecol Cancer. 2023 Nov 6;33(11):1743-1749. doi: 10.1136/ijgc-2023-004618.

Abstract

OBJECTIVE

Our study aimed to evaluate the incidence of pathological findings in asymptomatic Korean patients with BRCA1/2 pathogenic variants who underwent risk-reducing salpingo-oophorectomy and to assess their long-term prognosis.

METHODS

We retrospectively analyzed the medical records of patients with a germinal BRCA1/2 pathologic variant who had undergone risk-reducing salpingo-oophorectomy at Asan Medical Center (Seoul, Korea) between January 2013 and December 2020. All pathologic reports were made based on the sectioning and extensively examining the fimbriated end of the fallopian tube (SEE/FIM) protocol.

RESULTS

Out of 243 patients who underwent risk-reducing salpingo-oophorectomy, 121 (49.8%) had a BRCA1 mutation, 119 (48.9%) had a BRCA2 mutation, and three (1.2%) had both mutations. During the procedure, four (3.3%) patients with a BRCA1 mutation were diagnosed with serous tubal intraepithelial carcinoma (STIC) or serous tubal intraepithelial lesion (STIL), and another four patients (3.3%) were diagnosed with occult cancer despite no evidence of malignancy on preoperative ultrasound. In the BRCA2 mutation group, we found one (0.8%) case of STIC, but no cases of STIL or occult cancer. During the median follow-up period of 98 months (range, 44-104) for STIC and 54 months (range, 52-56) for STIL, none of the patients diagnosed with these precursor lesions developed primary peritoneal carcinomatosis.

CONCLUSIONS

Risk-reducing salpingo-oophorectomy, in asymptomatic Korean patients with BRCA1/2 pathogenic variants, detected ovarian cancer and precursor lesions, including STIC or STIL. Furthermore, our follow-up period did not reveal any instances of primary peritoneal carcinomatosis, suggesting a limited body of evidence supporting the imperative need for adjuvant treatment in patients diagnosed with these precursor lesions during risk-reducing salpingo-oophorectomy.

摘要

目的

本研究旨在评估接受预防性输卵管卵巢切除术的无症状韩国 BRCA1/2 致病性变异患者的病理性发现发生率,并评估其长期预后。

方法

我们回顾性分析了 2013 年 1 月至 2020 年 12 月在韩国首尔 Asan 医疗中心接受预防性输卵管卵巢切除术的具有生殖系 BRCA1/2 病理变异的患者的病历。所有病理报告均基于输卵管伞端(SEE/FIM)节段和广泛检查协议得出。

结果

在接受预防性输卵管卵巢切除术的 243 名患者中,121 名(49.8%)有 BRCA1 突变,119 名(48.9%)有 BRCA2 突变,3 名(1.2%)有两种突变。在手术过程中,4 名(3.3%)BRCA1 突变患者被诊断为输卵管上皮内癌(STIC)或输卵管上皮内病变(STIL),另有 4 名(3.3%)患者尽管术前超声无恶性证据,但被诊断为隐匿性癌。在 BRCA2 突变组中,我们发现 1 例(0.8%)STIC,但无 STIL 或隐匿性癌病例。在 STIC 的中位随访期 98 个月(范围,44-104)和 STIL 的 54 个月(范围,52-56)中,诊断为这些前体病变的患者均未发生原发性腹膜癌。

结论

在无症状韩国 BRCA1/2 致病性变异患者中,预防性输卵管卵巢切除术可检测到卵巢癌和前体病变,包括 STIC 或 STIL。此外,我们的随访期内未发现任何原发性腹膜癌病例,这表明支持在预防性输卵管卵巢切除术中诊断为这些前体病变的患者需要辅助治疗的证据有限。

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