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本文引用的文献

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Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer.奥拉帕利维持治疗新诊断的晚期卵巢癌患者。
N Engl J Med. 2018 Dec 27;379(26):2495-2505. doi: 10.1056/NEJMoa1810858. Epub 2018 Oct 21.
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Cancer statistics, 2018.癌症统计数据,2018 年。
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Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study.同源重组基因的突变与 GOG 218 中卵巢癌患者的结局:NRG 肿瘤学/妇科肿瘤学组的一项研究。
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Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial.芦卡帕利维持治疗铂类化疗后缓解的复发性卵巢癌(ARIEL3):一项随机、双盲、安慰剂对照、III 期临床试验。
Lancet. 2017 Oct 28;390(10106):1949-1961. doi: 10.1016/S0140-6736(17)32440-6. Epub 2017 Sep 12.
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Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.从10000例患者的前瞻性临床测序中揭示的转移性癌症的突变图谱。
Nat Med. 2017 Jun;23(6):703-713. doi: 10.1038/nm.4333. Epub 2017 May 8.
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Failure patterns according to molecular subtype in patients with invasive breast cancer following postoperative adjuvant radiotherapy: long-term outcomes in contemporary clinical practice.浸润性乳腺癌患者术后辅助放疗后按分子亚型划分的失败模式:当代临床实践中的长期结局
Breast Cancer Res Treat. 2017 Jun;163(3):555-563. doi: 10.1007/s10549-017-4206-8. Epub 2017 Mar 17.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议,2016年更新版(美国医学遗传学与基因组学学会次要发现v2.0):美国医学遗传学与基因组学学会政策声明
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Brain metastases in patients with EOC: Clinico-pathological and prognostic factors. A multicentric retrospective analysis from the MITO group (MITO 19).上皮性卵巢癌患者的脑转移:临床病理及预后因素。一项来自MITO研究组(MITO 19)的多中心回顾性分析。
Gynecol Oncol. 2016 Dec;143(3):532-538. doi: 10.1016/j.ygyno.2016.09.025. Epub 2016 Oct 5.
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Niraparib Maintenance Therapy in Platinum-Sensitive, Recurrent Ovarian Cancer.尼拉帕利维持治疗铂敏感复发性卵巢癌。
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Precision medicine at Memorial Sloan Kettering Cancer Center: clinical next-generation sequencing enabling next-generation targeted therapy trials.纪念斯隆凯特琳癌症中心的精准医学:临床新一代测序助力新一代靶向治疗试验。
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BRCA1/2 突变状态与上皮性卵巢癌脑转移的关系。

Brain metastasis in epithelial ovarian cancer by BRCA1/2 mutation status.

机构信息

Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.

出版信息

Gynecol Oncol. 2019 Jul;154(1):144-149. doi: 10.1016/j.ygyno.2019.05.004. Epub 2019 May 18.

DOI:10.1016/j.ygyno.2019.05.004
PMID:31113680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6589378/
Abstract

OBJECTIVE

To evaluate clinical outcomes of patients with BRCA-associated ovarian cancer who developed brain metastases (BM).

METHODS

Patients with epithelial ovarian, fallopian tube, and primary peritoneal cancer (EOC) and BM, treated at a single institution from 1/1/2008-7/1/2018, were identified from two institutional databases. Charts and medical records were retrospectively reviewed for clinical characteristics and germline BRCA mutation status. Appropriate statistics were used.

RESULTS

Of 3649 patients with EOC, 91 had BM (2.5%). Germline mutation status was available for 63 (69%) cases; 21 (35%) of these harbored a BRCA1/2 mutation (15 BRCA1, 6 BRCA2). Clinical characteristics were similar between groups. BM were diagnosed at a median of 31 months (95% CI, 22.6-39.4) in BRCA-mutated (mBRCA) and 32 months (95% CI, 23.7-40.3) in wild-type BRCA (wtBRCA) (p = 0.78) patients. Brain metastases were the only evidence of disease at time of BM diagnoses in 48% (n = 10) mBRCA and 19% (n = 8) wtBRCA (p = 0.02) patients. There was no difference in treatment of BM by mutation status (p = 0.84). Survival from time of BM diagnosis was 29 months (95%CI, 15.5-42.5) in mBRCA and 9 months (95% CI, 5.5-12.5) in wtBRCA patients, with an adjusted hazard ratio (HR) of 0.53, p = 0.09; 95% CI, 0.25-1.11. HR was adjusted for presence of systemic disease at time of BM diagnosis.

CONCLUSION

This is the largest study to date comparing outcomes in patients with EOC and BM by mutation status. mBRCA patients were more likely to have isolated BM, which may be a factor in their long survival. This supports the pursuit of aggressive treatment for mBRCA EOC patients with BM. Additional studies examining the correlation of BRCA mutational status with BM are warranted.

摘要

目的

评估发生脑转移(BM)的 BRCA 相关卵巢癌患者的临床结局。

方法

从两个机构数据库中确定了 2008 年 1 月 1 日至 2018 年 7 月 1 日在一家机构接受治疗的上皮性卵巢癌、输卵管癌和原发性腹膜癌(EOC)和 BM 患者。回顾性分析图表和病历,以了解临床特征和种系 BRCA 突变状态。使用了适当的统计学方法。

结果

在 3649 名 EOC 患者中,有 91 名患者发生了 BM(2.5%)。63 例(69%)可获得种系突变状态;其中 21 例(35%)携带 BRCA1/2 突变(15 例 BRCA1,6 例 BRCA2)。两组间的临床特征相似。BRCA 突变(mBRCA)组的 BM 诊断中位时间为 31 个月(95%CI,22.6-39.4),野生型 BRCA(wtBRCA)组为 32 个月(95%CI,23.7-40.3)(p=0.78)。48%(n=10)的 mBRCA 和 19%(n=8)的 wtBRCA 患者(p=0.02)在 BM 诊断时 BM 是唯一的疾病证据。根据突变状态,BM 的治疗无差异(p=0.84)。从 BM 诊断时开始的生存时间为 mBRCA 患者 29 个月(95%CI,15.5-42.5),wtBRCA 患者 9 个月(95%CI,5.5-12.5),调整后的风险比(HR)为 0.53,p=0.09;95%CI,0.25-1.11。HR 根据 BM 诊断时是否存在全身疾病进行了调整。

结论

这是迄今为止最大的一项研究,比较了 EOC 和 BM 患者按突变状态的结果。mBRCA 患者更有可能发生孤立性 BM,这可能是其长期生存的一个因素。这支持对发生 BM 的 mBRCA 卵巢癌患者进行积极治疗。需要进一步研究来检查 BRCA 突变状态与 BM 的相关性。