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两名患有转移性去势抵抗性前列腺癌的日本患者,存在体细胞双等位基因缺失以及剪接位点变异或缺失,对聚ADP核糖聚合酶抑制剂有反应:病例报告。

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

作者信息

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

机构信息

Department of Nephro-Urologic Surgery and Andrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie 514-8507 Japan.

Department of Oncologic Pathology, Mie University Graduate School of Medicine, Mie, Japan.

出版信息

Int Cancer Conf J. 2025 Apr 10;14(3):254-258. doi: 10.1007/s13691-025-00761-2. eCollection 2025 Jul.

DOI:10.1007/s13691-025-00761-2
PMID:40620530
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12229390/
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 loss, together with splice site variant (NM_000321.3:c.2489 + 1G > C) or loss. After PARPi administration, their metastatic sites had shrunk enough to keep partial response. These cases suggested that patients with mCRPC with biallelic loss and the splice site variant or loss may have remarkable response to PARPi.

摘要

我们治疗了两名转移性去势抵抗性前列腺癌(mCRPC)患者,他们使用聚二磷酸腺苷核糖聚合酶抑制剂(PARPi)后缓解持续时间超过12个月。病例1是一名60多岁的男性,有肺转移;病例2是一名70多岁的男性,有肝转移。进行了基因检测(FoundationOne CDx)。两名患者均存在体细胞双等位基因缺失,以及剪接位点变异(NM_000321.3:c.2489 + 1G > C)或缺失。给予PARPi治疗后,他们的转移部位缩小到足以维持部分缓解。这些病例表明,伴有双等位基因缺失以及剪接位点变异或缺失的mCRPC患者可能对PARPi有显著反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91c0/12229390/04f67ed9a9f1/13691_2025_761_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91c0/12229390/1a7c7f9d466b/13691_2025_761_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91c0/12229390/04f67ed9a9f1/13691_2025_761_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91c0/12229390/1a7c7f9d466b/13691_2025_761_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91c0/12229390/04f67ed9a9f1/13691_2025_761_Fig2_HTML.jpg

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本文引用的文献

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Urological cancer statistics on incidence from 1975 to 2019 and mortality from 1958 to 2022 in Japan.日本 1975 年至 2019 年泌尿生殖系统癌症发病率统计和 1958 年至 2022 年死亡率统计。
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Genomic Features and Clinical Implications of Intraductal Carcinoma of the Prostate.前列腺导管内癌的基因组特征及临床意义。
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