[Comprehensive Genomic Profiling Tests for Japanese Patients with Metastatic Castration-Resistant Prostate Cancer : A Single-Institution Experience].

Q4 Medicine
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
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引用次数: 0

Abstract

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.

[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]。
转移性去势抵抗性前列腺癌(mCRPC)的综合基因组谱分析正在迅速普及。本研究旨在调查日本mCRPC患者的基因改变谱。我们回顾性回顾了80例连续的mCRPC患者,这些患者在2021年至2022年期间在我们的机构接受了全面的基因组分析测试。所有患者都进行了下一代测序(NGS): FoundationOne®CDx (F1-CDx)或FoundationOne®Liquid CDx (F1L-CDx)。F1LCDx适用于年龄大于5年的组织标本或无法使用F1-CDx分析的病例。患者中位年龄为74岁。35例和45例分别接受F1-CDx和F1LCDx治疗。35例(100%)接受F1-CDx治疗的患者和43例(95%)接受F1L-CDx治疗的患者至少发现一种致病变异。共有11例和1例患者分别具有BRCA2和BRCA1的致病性变异。其中4例(33%)为种系变异。在接受F1-CDx治疗的患者中,TP53、CDK12和PTEN在约20%的患者中被发现。DNMT3A、TP53、AR和TET2在接受F1L-CDx治疗的患者中占20%。与F1-CDx相比,F1L-CDx中扩增和缺失的基因改变亚型比例较低。在我们的mCRPC队列中,几乎所有F1-CDx和F1L-CDx病例都成功检测到致病变异。BRCA1/2致病性变异患者的总比例与以往报道相似。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Acta Urologica Japonica
Acta Urologica Japonica Medicine-Medicine (all)
CiteScore
0.20
自引率
0.00%
发文量
74
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