Two Japanese patients with metastatic castration-resistant prostate cancer with somatic biallelic BRCA2 loss and RB1 splice site variant or loss who responded to Poly-ADP-ribose polymerase inhibitor: A case report.

IF 0.5 Q4 ONCOLOGY

International Cancer Conference Journal Pub Date : 2025-04-10 eCollection Date: 2025-07-01 DOI:10.1007/s13691-025-00761-2

Shiori Miyachi, Takeshi Sasaki, Momoko Kato, Katsunori Uchida, Shunsuke Owa, Taketomo Nishikawa, Shinichiro Higashi, Hiroto Yuasa, Kouhei Nishikawa, Yoshinaga Okugawa, Masatoshi Watanabe, Takahiro Inoue

{"title":"Two Japanese patients with metastatic castration-resistant prostate cancer with somatic biallelic BRCA2 loss and RB1 splice site variant or loss who responded to Poly-ADP-ribose polymerase inhibitor: A case report.","authors":"Shiori Miyachi, Takeshi Sasaki, Momoko Kato, Katsunori Uchida, Shunsuke Owa, Taketomo Nishikawa, Shinichiro Higashi, Hiroto Yuasa, Kouhei Nishikawa, Yoshinaga Okugawa, Masatoshi Watanabe, Takahiro Inoue","doi":"10.1007/s13691-025-00761-2","DOIUrl":null,"url":null,"abstract":"We treated two patients with metastatic castration-resistant prostate cancer (mCRPC) who achieved a response duration of more than 12 months with Poly-ADP-ribose polymerase inhibitor (PARPi). Case 1 was a patient in his 60s with lung metastases, and case 2 was in his 70s and presented liver metastases. Genetic tests (FoundationOne® CDx) were performed. Both patients had somatic biallelic BRCA2 loss, together with RB1 splice site variant (NM_000321.3:c.2489 + 1G > C) or RB1 loss. After PARPi administration, their metastatic sites had shrunk enough to keep partial response. These cases suggested that patients with mCRPC with biallelic BRCA2 loss and the RB1 splice site variant or loss may have remarkable response to PARPi.","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"14 3","pages":"254-258"},"PeriodicalIF":0.5000,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229390/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Cancer Conference Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s13691-025-00761-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/7/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

We treated two patients with metastatic castration-resistant prostate cancer (mCRPC) who achieved a response duration of more than 12 months with Poly-ADP-ribose polymerase inhibitor (PARPi). Case 1 was a patient in his 60s with lung metastases, and case 2 was in his 70s and presented liver metastases. Genetic tests (FoundationOne^® CDx) were performed. Both patients had somatic biallelic BRCA2 loss, together with RB1 splice site variant (NM_000321.3:c.2489 + 1G > C) or RB1 loss. After PARPi administration, their metastatic sites had shrunk enough to keep partial response. These cases suggested that patients with mCRPC with biallelic BRCA2 loss and the RB1 splice site variant or loss may have remarkable response to PARPi.

查看原文本刊更多论文

2例日本转移性去势抵抗性前列腺癌患者，伴有体细胞双等位基因BRCA2缺失和RB1剪接位点变异或缺失，对poly - adp核糖聚合酶抑制剂有反应：1例报告。

我们治疗了两例转移性去势抵抗性前列腺癌（mCRPC）患者，他们使用poly - adp核糖聚合酶抑制剂（PARPi）获得了超过12个月的反应时间。病例1为60多岁的肺转移患者，病例2为70多岁的肝转移患者。进行基因检测（FoundationOne®CDx）。两名患者均有体细胞双等位基因BRCA2缺失，并伴有RB1剪接位点变异（NM_000321.3: C .2489 + 1G > C）或RB1缺失。服用PARPi后，他们的转移部位缩小到足以保持部分反应。这些病例提示双等位基因BRCA2缺失和RB1剪接位点变异或缺失的mCRPC患者可能对PARPi有显著的反应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

International Cancer Conference Journal ONCOLOGY-

自引率

14.30%

发文量

期刊介绍： This online-only journal publishes original case reports on all types of cancer. In particular, we welcome not only case reports of educational value in the diagnosis and treatment of cancers, but also reports on molecularly analyzed cancer cases, including gene mutations, gene fusions, gene expression, and changes in copy number, regardless of their known clinical significance. Assessing the molecular analysis of a tumor usually requires a “cancer conference” in which experts from various fields discuss it. Even if the authors and their respective “cancer conference” were unable to determine the clinical significance of molecular changes at the time of submission and publication, their data may provide evidence that will help the scientific community develop precision medicine solutions in the future. We welcome case reports with reviews of the literature on similar cases, as they are more useful and valuable to readers than are reports of rare cases. International Cancer Conference Journal is the official publication of the Japan Society of Clinical Oncology (JSCO). - Presents an online-only collection of original case reports on all types of cancer - In particular, welcomes molecularly analyzed cancer cases - The Official Publication of the Japan Society of Clinical Oncology (JSCO)