前列腺癌是全球男性中第二常见的癌症。新发神经内分泌前列腺癌 (NEPC) 在初次诊断时并不常见，然而，在接受雄激素剥夺治疗的前列腺腺癌 (PRAD) 病例中，高达 25% 出现（治疗诱导的）t-NEPC，预后极差。从 PRAD 到 t-NEPC 的转变受到几个关键基因突变的支持； TP53、RB1 和 MYCN 是主要的相关基因，与其他神经内分泌肿瘤有相似之处。广泛的表观遗传改变，例如 DNA 甲基化的畸变、组蛋白翻译后修饰和非编码 RNA，可能会驱动从 PRAD 到 t-NEPC 的谱系可塑性。 NEPC 的临床诊断因缺乏可用的生物标志物而受到阻碍；评估 NEPC 中循环肿瘤细胞和 ctDNA 的液体活检技术的最新进展表明，监测 NEPC 进展的非侵入性方法即将出现。这些技术对于 NEPC 管理至关重要； t-NEPC 的诊断对于实施有效的治疗至关重要，而精准医疗对于为患者提供最佳治疗结果至关重要。版权所有 © 2024。由 Elsevier Inc. 出版。

Prostate cancer is the second most prevalent cancer in men globally. De novo neuroendocrine prostate cancer (NEPC) is uncommon at initial diagnosis, however, (treatment-induced) t-NEPC emerges in up to 25% of prostate adenocarcinoma (PRAD) cases treated with androgen deprivation, carrying a drastically poor prognosis. The transition from PRAD to t-NEPC is underpinned by several key genetic mutations; TP53, RB1, and MYCN are the main genes implicated, bearing similarities to other neuroendocrine tumours. A broad range of epigenetic alterations, such as aberrations in DNA methylation, histone post-translational modifications, and non-coding RNAs, may drive lineage plasticity from PRAD to t-NEPC. The clinical diagnosis of NEPC is hampered by a lack of accessible biomarkers; recent advances in liquid biopsy techniques assessing circulating tumour cells and ctDNA in NEPC suggest that the advent of non-invasive means of monitoring progression to NEPC is on the horizon. Such techniques are vital for NEPC management; diagnosis of t-NEPC is crucial for implementing effective treatment, and precision medicine will be integral to providing the best outcomes for patients.Copyright © 2024. Published by Elsevier Inc.