使用混合捕获下一代测序进行的全面基因组分析测试通常用于临床实践，以在全球癌症治疗中采用精准医学。在这项研究中，我们的目的是分析在日本去势抵抗性前列腺癌患者中进行的综合基因组分析测试获得的图谱，并讨论现实世界中的遗传发现。总共 60 例病例和 57 例去势抵抗性前列腺癌患者前列腺癌患者在 2021 年 1 月 1 日至 2022 年 12 月 31 日期间接受了全面的基因组图谱测试。选择了四种类型的全面基因组图谱测试，并确定了具有临床意义的癌症特异性基因改变。患者的中位年龄为 74 岁，中位年龄为提交时前列腺特异性抗原值为 18.6 ng/ml。 60 例中有 57 例（95%）为转移性去势抵抗性前列腺癌，3 例（5%）为非转移性。在所有基因改变中，雄激素受体改变最常见，有17例（28.3％），其次是TP53 15例（25.0％），CDK12 14例（23.3％），磷酸酶和张力蛋白同源物10例（ 16.7%）和9例ATM（15.0%）突变。根据综合基因组分析检测结果，共有13名患者（21.7%）接受了全身治疗。总体而言，与未接受新治疗的组相比，基于全面基因组分析测试的全身治疗组的生存率显着更高（P = 0.041）。建议对以下情况的去势抵抗性前列腺癌患者进行全面基因组分析测试：对标准疗法有抵抗力，因为这可以提供新的治疗选择。© 作者 2023。由牛津大学出版社出版。版权所有。如需许可，请发送电子邮件至：journals.permission@oup.com。

Comprehensive genomic profiling testing using a hybrid-capture next-generation sequencing is commonly used in clinical practice to employ precision medicine in cancer treatment worldwide. In this study, we aimed to analyze the profiles obtained using comprehensive genomic profiling testing that was performed in Japanese castration-resistant prostate cancer patients and to discuss the genetic findings in a real-world setting.A total of 60 cases and 57 castration-resistant prostate cancer patients underwent comprehensive genomic profiling testing between 1 January 2021 and 31 December 2022. Four types of comprehensive genomic profiling testing were selected, and clinically significant cancer-specific gene alterations were identified.The median age of patients was 74 years, and the median prostate-specific antigen value at the time of submission was 18.6 ng/ml. Fifty-seven (95%) of 60 cases were metastatic castration-resistant prostate cancers, and 3 cases (5%) were non-metastatic. Among all genetic alterations, androgen-receptor alteration was the most frequently detected in 17 cases (28.3%), followed by 15 cases of TP53 (25.0%), 14 cases of CDK12 (23.3%), 10 cases of phosphatase and tensin homolog (16.7%) and 9 cases of ATM (15.0%) mutations. A total of 13 patients (21.7%) received systemic therapy according to the comprehensive genomic profiling testing results. Overall, the survival rate was significantly greater in the group treated through systemic therapy based on comprehensive genomic profiling testing compared with the group without new therapeutic treatment (P = 0.041).Comprehensive genomic profiling testing is recommended in castration-resistant prostate cancer patients identified as resistant to standard therapy as this can provide a new therapeutic option.© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permission@oup.com.