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非 BRCA 和 Lynch 综合征卵巢癌易感基因致病性变异女性的风险降低手术的护理模式和结局。

Patterns of care and outcomes of risk reducing surgery in women with pathogenic variants in non-BRCA and Lynch syndrome ovarian cancer susceptibility genes.

机构信息

Kaiser Permanente Panorama City Medical Center, Division of Gynecologic Oncology, 13640 Roscoe Blvd., Panorama City, CA 91402, USA.

Cedars-Sinai Medical Center, Samuel Oschin Cancer Center, 127 S. San Vicente Blvd., 7th Floor, Los Angeles, CA 90048, USA.

出版信息

Gynecol Oncol. 2023 Jun;173:1-7. doi: 10.1016/j.ygyno.2023.03.017. Epub 2023 Apr 6.

Abstract

OBJECTIVES

Guidelines recommend risk-reducing bilateral salpingo-oophorectomy (RRSO) for women with pathogenic variants of non-BRCA and Lynch syndrome-associated ovarian cancer susceptibility genes. Optimal timing and findings at the time of RRSO for these women remains unclear. We sought to characterize practice patterns and frequency of occult gynecologic cancers for these women at our two institutions.

METHODS

Women with germline ovarian cancer susceptibility gene pathogenic variants who underwent RRSO between 1/2000-9/2019 were reviewed in an IRB-approved study. All patients were asymptomatic with no suspicion for malignancy at time of RRSO. Clinico-pathologic characteristics were extracted from the medical records.

RESULTS

26 Non-BRCA (9 BRIP1, 9 RAD51C, and 8 RAD51D) and 75 Lynch (36 MLH1, 18 MSH2, 21 MSH6) pathogenic variants carriers were identified. Median age at time of RRSO was 47. There were no occurrences of occult ovarian or fallopian tube cancer in either group. Two patients (3%) in the Lynch group had occult endometrial cancer. Median follow up was 18 and 35 months for non-BRCA and Lynch patients, respectively. No patient developed primary peritoneal cancer upon follow up. Post-surgical complications occurred in 9/101 (9%) of patients. Hormone replacement therapy (HRT) was rarely used despite reported post-menopausal symptoms in 6/25 (23%) and 7/75 (37%) patients, respectively.

CONCLUSIONS

No occult ovarian or tubal cancers were observed in either group. No recurrent or primary gynecologic-related cancers occurred upon follow-up. Despite frequent menopausal symptoms, HRT use was rare. Both groups experienced surgical complications when hysterectomy and/or concurrent colon surgery was performed suggesting concurrent surgeries should only be performed when indicated.

摘要

目的

指南建议对携带非 BRCA 和 Lynch 综合征相关卵巢癌易感性基因的致病性变异的女性进行降低风险的双侧输卵管卵巢切除术(RRSO)。对于这些女性,RRSO 的最佳时机和结果尚不清楚。我们试图描述我们两个机构中这些女性的 RRSO 时的隐匿性妇科癌症的发病模式和频率。

方法

对 2000 年 1 月至 2019 年 9 月期间接受 RRSO 的携带种系卵巢癌易感性基因致病性变异的女性进行了一项经机构审查委员会批准的研究。所有患者在 RRSO 时均无症状且无恶性肿瘤可疑迹象。从病历中提取临床病理特征。

结果

共确定了 26 例非 BRCA(9 例 BRIP1、9 例 RAD51C 和 8 例 RAD51D)和 75 例 Lynch(36 例 MLH1、18 例 MSH2、21 例 MSH6)致病性变异携带者。RRSO 时的中位年龄为 47 岁。在非 BRCA 和 Lynch 组均未发现隐匿性卵巢或输卵管癌。Lynch 组中有 2 例(3%)患者存在隐匿性子宫内膜癌。非 BRCA 和 Lynch 组患者的中位随访时间分别为 18 个月和 35 个月。随访期间无患者发生原发性腹膜癌。9/101(9%)例患者发生术后并发症。尽管有 6/25(23%)和 7/75(37%)例患者分别报告了绝经后症状,但很少使用激素替代疗法(HRT)。

结论

两组均未发现隐匿性卵巢或输卵管癌。随访期间未发生复发性或原发性妇科相关癌症。尽管经常出现绝经后症状,但 HRT 的使用很少。当行子宫切除术和/或同时行结肠手术时,两组患者均发生手术并发症,这表明只有在有指征时才应进行同时手术。

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