转录组研究揭示了转移性前列腺癌（mPC）患者中循环肿瘤DNA（ctDNA）下一代测序（NGS）的阳性率存在差异，这使得将其应用到常规实践中变得复杂。本回顾性研究分析了2021年5月至2023年3月间100例mPC患者的ctDNA测序结果，以确定与阳性ctDNA相关的因素。为测序使用了三个自定义基因组。整体而言，有63％的患者表现为一/二级体细胞突变，而有12％的患者具有致病/可能致病的生殖细胞突变。主要突变的基因包括AR，TP53，RB1，PTEN和APC。21％的患者存在BRCA1/2的突变，不论是生殖细胞突变还是体细胞突变。在转移性去势性抵抗前列腺癌（mCRPC）患者中，ctDNA阳性样本通常显示更高的中位数前列腺特异性抗原（PSA）水平，并更有可能处于放射学和临床进展期，尽管它们与PSA进展无显著关联。我们的结果表明，在疾病进展期间，ctDNA分析可以检测到mPC患者中的有意义的基因变化。

The positivity rate of circulating tumor DNA (ctDNA) next-generation sequencing (NGS) varies among patients with metastatic prostate cancer (mPC), complicating its incorporation into regular practice. This retrospective study analyzed the ctDNA sequencing results of 100 mPC patients from May 2021 to March 2023 to identify the factors associated with positive ctDNA. Three custom gene panels were used for sequencing. Overall, 63% of the patients exhibited tier I/II somatic alterations, while 12% had pathogenic/likely pathogenic germline alterations. The key genes that were altered included AR, TP53, RB1, PTEN, and APC. Mutations in BRCA1/2, either germline or somatic, were observed in 21% of the patients. Among the metastatic castration-resistant prostate cancer (mCRPC) patients, the ctDNA-positive samples generally showed higher median prostate-specific antigen (PSA) levels and were more likely to be at the radiographic and clinical progressive disease stages, although they were not significantly associated with PSA progression. Our results suggest that ctDNA analysis could detect meaningful genetic changes in mPC patients, especially during disease progression.