肿瘤基因组学高通量测序（tbNGS）作为针对卵巢癌的治疗工具并不一致地被使用，除了检测体细胞BRCA1和BRCA2基因突变之外，其临床益处并不确定。本研究旨在评估tbNGS在卵巢癌患者中的临床相关性。本回顾性研究纳入高级别上皮卵巢癌患者。通过光学字符识别和自然语言处理在电子医疗记录中识别出tbNGS结果。收集了遗传、临床和人口统计学数据。采用对数秩检验计算并比较无进展生存期（PFS）和总生存期。采用多元Cox回归和聚类分析确定与存活相关的基因改变模式。在描述的人群中，共有1092名患者，其中409名（37.5%）具有tbNGS结果。几乎所有患者（96.1％[393/409]）都有一种或多种基因改变。在25.9％（106/409）的患者中，确定了与有针对性的治疗相一致的改变，另外48.7％（199/409）的tbNGS结果表明符合临床试验的条件。最频繁的改变是TP53、PIK3CA和NF1突变以及CCNE1扩增。BRCA1和BRCA2突变共同与更长的PFS相关（危险比[HR]，0.62; 95%置信区间[CI]，0.42-0.92; p = .02），而AKT2扩增与更短的PFS相关（HR，3.86；95% CI，1.002-14.88; p＜.05）。多元Cox回归和聚类分析确定了几种遗传改变的组合，这些组合与高级别浆液性癌患者的结果相一致。tbNGS通常可以提供临床相关信息。人群水平肿瘤基因组学的详细分析可能有助于识别治疗靶点并指导临床决策支持工具的开发。虽然越来越多的卵巢癌患者进行tbNGS来发现其肿瘤中的基因突变，但此类检测的益处尚未确定。在400多名接受tbNGS治疗的卵巢癌患者中，几乎所有患者都检测到了一种或多种基因变异，其中四分之一的患者具有符合个性化治疗的突变。©2023年美国癌症协会。

Tumor-based next-generation sequencing is used inconsistently as a tool to tailor treatment of ovarian cancer, yet beyond detection of somatic BRCA1 and BRCA2 mutations, the clinical benefit is not well established. This study aimed to assess the clinical relevance of tumor-based next-generation sequencing (tbNGS) in patients with ovarian cancer.This retrospective study included patients with high-grade epithelial ovarian carcinoma. tbNGS results were identified in the electronic medical record using optical character recognition and natural language processing. Genetic, clinical, and demographic information was collected. Progression-free survival (PFS) and overall survival were calculated and compared using log-rank tests. Multivariate Cox regression and clustering analyses were used to identify patterns of genetic alterations associated with survival.Of 1092 patients in the described population, 409 (37.5%) had tbNGS results. Nearly all (96.1% [393/409]) had one or more genetic alterations. In 25.9% (106/409) of patients, an alteration that aligned with a targeted treatment was identified, and in an additional 48.7% (199/409), tbNGS results suggested eligibility for an investigational agent or clinical trial. The most frequent alterations were TP53, PIK3CA, and NF1 mutations, and CCNE1 amplification. Together, BRCA1 and BRCA2 mutations were associated with longer PFS (hazard ratio [HR], 0.62; 95% confidence interval [CI], 0.42-0.92; p = .02), whereas AKT2 amplification was associated with shorter PFS (HR, 3.86; 95% CI, 1.002-14.88; p < .05). Multivariate Cox regression and clustering analyses identified several combinations of genetic alterations that corresponded to outcomes in patients with high-grade serous carcinoma.tbNGS often yields clinically relevant information. Detailed analysis of population-level tumor genomics may help to identify therapeutic targets and guide development of clinical decision support tools.Although more and more patients with ovarian cancer are undergoing tumor-based next-generation sequencing to identify genetic mutations in their tumors, the benefits of such testing are not well established. In a group of over 400 patients with ovarian cancer who underwent tumor-based next-generation sequencing in the course of their treatment, nearly all patients had one or more genetic alterations detected, and one out of four patients had a mutation that qualified them for a personalized treatment option.© 2023 American Cancer Society.