Dana-Farber Cancer Institute, Boston, MA.
University of Washington Medicine, Seattle, WA.
J Clin Oncol. 2020 Apr 10;38(11):1222-1245. doi: 10.1200/JCO.19.02960. Epub 2020 Jan 27.
To provide recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer based on available evidence and expert consensus.
A literature search and prospectively defined study selection criteria sought systematic reviews, meta-analyses, randomized controlled trials (RCTs), and comparative observational studies published from 2007 through 2019. Guideline recommendations were based on the review of the evidence.
The systematic review identified 19 eligible studies. The evidence consisted of systematic reviews of observational data, consensus guidelines, and RCTs.
All women diagnosed with epithelial ovarian cancer should have germline genetic testing for and other ovarian cancer susceptibility genes. In women who do not carry a germline pathogenic or likely pathogenic variant, somatic tumor testing for pathogenic or likely pathogenic variants should be performed. Women with identified germline or somatic pathogenic or likely pathogenic variants in genes should be offered treatments that are US Food and Drug Administration (FDA) approved in the upfront and the recurrent setting. Women diagnosed with clear cell, endometrioid, or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). Women with identified dMMR should be offered FDA-approved treatment based on these results. Genetic evaluations should be conducted in conjunction with health care providers familiar with the diagnosis and management of hereditary cancer. First- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing. Clinical decision making should not be made based on a variant of uncertain significance. Women with epithelial ovarian cancer should have testing at the time of diagnosis.
根据现有证据和专家共识,为诊断为上皮性卵巢癌的女性提供基因和肿瘤检测建议。
通过文献检索和前瞻性定义的研究选择标准,寻找 2007 年至 2019 年发表的系统评价、荟萃分析、随机对照试验(RCT)和比较观察性研究。指南建议基于对证据的审查。
系统评价确定了 19 项合格研究。证据包括观察性数据的系统评价、共识指南和 RCT。
所有诊断为上皮性卵巢癌的女性均应进行胚系基因 和其他卵巢癌易感性基因检测。在未携带胚系致病性或可能致病性 变异的女性中,应进行体细胞肿瘤检测以检测 致病性或可能致病性变异。在 基因中发现胚系或体细胞致病性或可能致病性变异的女性,应提供美国食品和药物管理局(FDA)批准的用于一线和复发性治疗的药物。诊断为透明细胞、子宫内膜样或黏液性卵巢癌的女性应进行体细胞肿瘤检测以检测错配修复缺陷(dMMR)。发现 dMMR 的女性应根据这些结果提供 FDA 批准的治疗方法。遗传评估应与熟悉遗传性癌症诊断和管理的医疗保健提供者一起进行。已知有胚系致病性癌症易感性基因变异的卵巢癌患者的一级或二级血亲,应提供个体化的遗传风险评估、咨询和基因检测。不应根据不确定意义的变异来做出临床决策。上皮性卵巢癌患者应在诊断时进行检测。