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 includedAR,TP53,RB1,PTEN, andAPC. Mutations inBRCA1/2, 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.
循环肿瘤DNA（ctDNA）下一代测序（NGS）在转移性前列腺癌（mPC）患者中的阳性率存在差异，这使其在常规临床实践中的应用变得复杂。本回顾性研究分析了2021年5月至2023年3月期间100例mPC患者的ctDNA测序结果，以确定与ctDNA阳性相关的因素。研究采用了三种定制基因面板进行测序。总体而言，63%的患者表现出I/II级体细胞变异，12%的患者携带致病性或可能致病性胚系变异。主要发生变异的基因包括AR、TP53、RB1、PTEN和APC。在21%的患者中观察到BRCA1/2基因的胚系或体细胞突变。在转移性去势抵抗性前列腺癌（mCRPC）患者中，ctDNA阳性样本通常表现出更高的中位前列腺特异性抗原（PSA）水平，且更多处于影像学及临床疾病进展阶段，但与PSA进展无显著相关性。我们的结果表明，ctDNA分析能够检测mPC患者有临床意义的基因变化，尤其在疾病进展期间。
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression
肿瘤(癌症)患者之家