{"title":"[日本转移性去势抵抗性前列腺癌患者的综合基因组分析测试:单一机构的经验]。","authors":"Shiori Miyachi, Takeshi Sasaki, Momoko Kato, Shinichiro Higashi, Satoru Masui, Kouhei Nishikawa, Takumi Fujiwara, Takahito Kitajima, Yotaro Hashizume, Katsunori Uchida, Hiroshi Imai, Masatoshi Watanabe, Yoshinaga Okugawa, Takahiro Inoue","doi":"10.14989/ActaUrolJap_71_6_171","DOIUrl":null,"url":null,"abstract":"<p><p>Comprehensive genomic profiling for metastatic castration-resistant prostate cancer (mCRPC) is rapidly becoming widespread. This study sought to investigate the gene alteration profiles of Japanese patients with mCRPC. We retrospectively reviewed 80 consecutive mCRPC patients who underwent comprehensive genomic profiling tests at our institution between 2021 and 2022. All patients underwent next-generation sequencing (NGS) : FoundationOne® CDx (F1-CDx) or FoundationOne® Liquid CDx (F1L-CDx). F1LCDx was indicated for cases in which tissue specimens were older than 5 years or could not be analyzed using F1-CDx. The median patient age was 74 years. Thirty-five and 45 patients received F1-CDx and F1LCDx, respectively. At least one pathogenic variant was found in 35 (100%) who received F1-CDx and 43 (95%) who received F1L-CDx. In total, 11 and 1 patients had pathogenic variants of BRCA2 and BRCA1, respectively. Among them, 4 cases (33%) were found to be germline variants. TP53, CDK12, and PTEN were found in > 20% of cases who received F1-CDx. DNMT3A, TP53, AR, and TET2 were found in > 20% of cases who received F1L-CDx. The proportion of gene alteration subtypes of amplification and loss in F1L-CDx was less common than that in F1-CDx. Pathogenic variants were successfully detected in almost all F1-CDx and F1L-CDx cases in our mCRPC cohort. The total proportion of BRCA1/2 pathogenic variant patients was similar to those in previous reports.</p>","PeriodicalId":39291,"journal":{"name":"Acta Urologica Japonica","volume":"71 6","pages":"171-179"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Comprehensive Genomic Profiling Tests for Japanese Patients with Metastatic Castration-Resistant Prostate Cancer : A Single-Institution Experience].\",\"authors\":\"Shiori Miyachi, Takeshi Sasaki, Momoko Kato, Shinichiro Higashi, Satoru Masui, Kouhei Nishikawa, Takumi Fujiwara, Takahito Kitajima, Yotaro Hashizume, Katsunori Uchida, Hiroshi Imai, Masatoshi Watanabe, Yoshinaga Okugawa, Takahiro Inoue\",\"doi\":\"10.14989/ActaUrolJap_71_6_171\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Comprehensive genomic profiling for metastatic castration-resistant prostate cancer (mCRPC) is rapidly becoming widespread. This study sought to investigate the gene alteration profiles of Japanese patients with mCRPC. We retrospectively reviewed 80 consecutive mCRPC patients who underwent comprehensive genomic profiling tests at our institution between 2021 and 2022. All patients underwent next-generation sequencing (NGS) : FoundationOne® CDx (F1-CDx) or FoundationOne® Liquid CDx (F1L-CDx). F1LCDx was indicated for cases in which tissue specimens were older than 5 years or could not be analyzed using F1-CDx. The median patient age was 74 years. Thirty-five and 45 patients received F1-CDx and F1LCDx, respectively. At least one pathogenic variant was found in 35 (100%) who received F1-CDx and 43 (95%) who received F1L-CDx. In total, 11 and 1 patients had pathogenic variants of BRCA2 and BRCA1, respectively. Among them, 4 cases (33%) were found to be germline variants. TP53, CDK12, and PTEN were found in > 20% of cases who received F1-CDx. DNMT3A, TP53, AR, and TET2 were found in > 20% of cases who received F1L-CDx. The proportion of gene alteration subtypes of amplification and loss in F1L-CDx was less common than that in F1-CDx. Pathogenic variants were successfully detected in almost all F1-CDx and F1L-CDx cases in our mCRPC cohort. The total proportion of BRCA1/2 pathogenic variant patients was similar to those in previous reports.</p>\",\"PeriodicalId\":39291,\"journal\":{\"name\":\"Acta Urologica Japonica\",\"volume\":\"71 6\",\"pages\":\"171-179\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Urologica Japonica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14989/ActaUrolJap_71_6_171\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Urologica Japonica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14989/ActaUrolJap_71_6_171","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Comprehensive Genomic Profiling Tests for Japanese Patients with Metastatic Castration-Resistant Prostate Cancer : A Single-Institution Experience].
Comprehensive genomic profiling for metastatic castration-resistant prostate cancer (mCRPC) is rapidly becoming widespread. This study sought to investigate the gene alteration profiles of Japanese patients with mCRPC. We retrospectively reviewed 80 consecutive mCRPC patients who underwent comprehensive genomic profiling tests at our institution between 2021 and 2022. All patients underwent next-generation sequencing (NGS) : FoundationOne® CDx (F1-CDx) or FoundationOne® Liquid CDx (F1L-CDx). F1LCDx was indicated for cases in which tissue specimens were older than 5 years or could not be analyzed using F1-CDx. The median patient age was 74 years. Thirty-five and 45 patients received F1-CDx and F1LCDx, respectively. At least one pathogenic variant was found in 35 (100%) who received F1-CDx and 43 (95%) who received F1L-CDx. In total, 11 and 1 patients had pathogenic variants of BRCA2 and BRCA1, respectively. Among them, 4 cases (33%) were found to be germline variants. TP53, CDK12, and PTEN were found in > 20% of cases who received F1-CDx. DNMT3A, TP53, AR, and TET2 were found in > 20% of cases who received F1L-CDx. The proportion of gene alteration subtypes of amplification and loss in F1L-CDx was less common than that in F1-CDx. Pathogenic variants were successfully detected in almost all F1-CDx and F1L-CDx cases in our mCRPC cohort. The total proportion of BRCA1/2 pathogenic variant patients was similar to those in previous reports.