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BRCA 基因突变携带者卵巢癌治疗后的乳腺癌监测

Breast cancer surveillance following ovarian cancer in BRCA mutation carriers.

机构信息

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Division of Surgical Oncology, Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

出版信息

Gynecol Oncol. 2022 Jan;164(1):202-207. doi: 10.1016/j.ygyno.2021.10.077. Epub 2021 Nov 30.

Abstract

OBJECTIVES

BRCA 1 or 2 mutation carriers have increased risk of developing breast cancer (BC) and serous epithelial ovarian cancer (EOC). The incidence of BC over time after EOC is unknown. Optimal BC surveillance for BRCA mutation carriers following EOC has not been defined.

METHODS

A multi-institutional retrospective chart review was performed. Patients with BRCA -associated EOC diagnosed between 1996 and 2016 were followed for an average of 80 months. Women with previous bilateral mastectomy were excluded; women with prior BC and an intact breast were included. Descriptive statistics, Chi Square, and univariate survival analysis were performed.

RESULTS

184 patients with BRCA -associated EOC were identified. Eighteen (10%) were diagnosed with BC a median of 48 months following EOC. Two (1%) with prior BC developed contralateral BC and 16 (9%) developed primary BC. The majority of BC (55%) was diagnosed 3 years following EOC. The 3-, 5- and 10-year incidence of BC was 5.6%, 9.5% and 33.3%. Annual mammography was performed in 43% and MRI in 34%. Twenty-eight (15%) women underwent risk-reducing mastectomy (RRM). There was no statistically significant difference in BC screening between women with, and without, a prior BC. BC was most commonly detected on mammogram. Three (17%) women had occult BC at the time of RRM. Nine (50%) had DCIS, and 8 (44%) had stage I/II BC. Median 5- and 10-year survival was 68% and 43% and was comparable between groups.

CONCLUSIONS

Ten percent of women developed BC after EOC. The incidence of BC following EOC in BRCA carriers increases over time, and surveillance is recommended given their enhanced survival of EOC. Timely genetic testing for women with EOC is imperative to better triage BC screening resources and treatment.

摘要

目的

BRCA1 或 2 基因突变携带者发生乳腺癌(BC)和浆液性上皮性卵巢癌(EOC)的风险增加。EOC 后 BC 的发病时间尚不清楚。BRCA 基因突变携带者 EOC 后的最佳 BC 监测尚未确定。

方法

进行了一项多机构回顾性图表审查。1996 年至 2016 年间诊断为 BRCA 相关 EOC 的患者平均随访 80 个月。排除既往双侧乳房切除术的患者;纳入既往 BC 且乳房完整的患者。进行描述性统计、卡方检验和单变量生存分析。

结果

确定了 184 例 BRCA 相关 EOC 患者。18 例(10%)EOC 后中位时间 48 个月诊断为 BC。2 例(1%)既往有 BC 患者发生对侧 BC,16 例(9%)患者发生原发性 BC。大多数 BC(55%)在 EOC 后 3 年诊断。BC 的 3、5 和 10 年发病率分别为 5.6%、9.5%和 33.3%。43%的患者每年进行乳房 X 线摄影检查,34%的患者进行 MRI 检查。28 例(15%)患者行预防性乳房切除术(RRM)。有和没有既往 BC 的患者之间的 BC 筛查无统计学显著差异。BC 最常通过乳房 X 线摄影检查发现。3 例(17%)患者在 RRM 时存在隐匿性 BC。9 例(50%)患者为 DCIS,8 例(44%)患者为 I/II 期 BC。5 年和 10 年中位生存率分别为 68%和 43%,两组之间无差异。

结论

EOC 后 10%的女性发生 BC。BRCA 携带者 EOC 后 BC 的发病率随时间增加,鉴于其 EOC 生存时间延长,建议进行监测。对 EOC 患者进行及时的基因检测对于更好地分流 BC 筛查资源和治疗至关重要。

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