Yoon Chang Eil, Kang San, Rhew Seung Ah, Kwon Hyeok Jae, Shin Dongho, Moon Hyong Woo, Kim Mee Young, Lee Ji Youl
Department of Urology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea.
Catholic Prostate Institute, The Catholic University of Korea, Seoul, Republic of Korea.
BMC Urol. 2025 Jul 14;25(1):166. doi: 10.1186/s12894-025-01840-5.
The purpose of this study was to identify genetic mutations in patients with localized and metastatic prostate cancer, exploring the relationship between these mutations and clinical outcomes.
We conducted next-generation sequencing on tissue samples from 106 prostate cancer patients at Seoul St. Mary’s Hospital, analyzing prostate-specific antigen (PSA) levels, tumor, node, metastasis (TNM) staging, Gleason score (GS), and clinical course, including treatment modalities and biochemical recurrence (BCR).
The study included 65 patients with localized and 41 with metastatic prostate cancer. Significant differences were noted in PSA levels, T stage, GS, and treatment modalities. We observed prevalent single-nucleotide variations (SNVs), copy number variations (CNVs), and structural variations including gene fusions like TMPRSS2-ERG. Key predictors of metastatic prostate cancer identified were T stage, GS, PIK3CA, LRP6, LRRK2, and APOBEC3B deletion. BRCA2, BCL6, and CHEK2 were significant predictors for BCR.
Our findings suggest that specific genetic mutations, including PIK3CA, LRP6, LRRK2, and BRCA2, are linked to prostate cancer metastasis and BCR. These results highlight the potential of genetic analysis in forecasting the prognosis of prostate cancer patients and guiding therapeutic decisions.
The online version contains supplementary material available at 10.1186/s12894-025-01840-5.
本研究旨在鉴定局限性和转移性前列腺癌患者的基因突变，探讨这些突变与临床结局之间的关系。
我们对首尔圣玛丽医院106例前列腺癌患者的组织样本进行了二代测序，分析前列腺特异性抗原（PSA）水平、肿瘤、淋巴结、转移（TNM）分期、 Gleason评分（GS）以及临床病程，包括治疗方式和生化复发（BCR）。
该研究纳入了65例局限性前列腺癌患者和41例转移性前列腺癌患者。在PSA水平、T分期、GS和治疗方式方面存在显著差异。我们观察到普遍存在的单核苷酸变异（SNV）、拷贝数变异（CNV）以及包括TMPRSS2-ERG等基因融合在内的结构变异。确定的转移性前列腺癌的关键预测因子为T分期、GS、PIK3CA、LRP6、LRRK2和APOBEC3B缺失。BRCA2、BCL6和CHEK2是BCR的显著预测因子。
我们的研究结果表明，包括PIK3CA、LRP6、LRRK2和BRCA2在内的特定基因突变与前列腺癌转移和BCR相关。这些结果凸显了基因分析在预测前列腺癌患者预后和指导治疗决策方面的潜力。
在线版本包含可在10.1186/s12894-025-01840- 的补充材料。 5
