前列腺癌 (PC) 是最常诊断出的癌症，也是男性癌症相关死亡的第二大原因。从广泛的治疗方法中可以明显看出，它是异质的。大多数 PC 患者最初对雄激素剥夺疗法有反应；然而，大多数病例要么是激素敏感型前列腺癌，要么是去势抵抗型前列腺癌。目前的治疗方案遵循 PC 的演变，这是一个不断进步的过程，涉及广泛的基因组改变的组合。这些基因组改变要么是遗传性种系突变，例如 BRCA2 突变，要么是仅针对肿瘤细胞（体细胞）的突变。肿瘤特异性基因组谱包括基因组结构重排、典型雄激素反应基因和许多其他特定基因，例如 TMPRSS2-ERG 融合、SPOP/FOXA1、TP53/RB1/PTEN 和 BRCA2。新证据表明信号通路的参与，包括 PI3K、WNT/β-catenin、SRC 和 IL-6/STAT，这些信号通路已被证明可促进 PC 中上皮间质转化癌干细胞样特征/干细胞性和神经内分泌分化。在过去的十年中，我们对基因型-表型关系的理解得到了显着增强。 PC 与典型遗传改变和信号通路激活基因相关的遗传背景使人们对分子亚型和疾病格局有了更深入的了解，从而使针对不同基因型和表型的个体疗法发挥更灵活的作用。版权所有 © 2024 作者。由 Wolters Kluwer Health, Inc. 出版

Prostate cancer (PC) is the most frequently diagnosed cancer and second leading cause of cancer-related deaths in men. It is heterogeneous, as is evident from the wide spectrum of therapeutic approaches. Most patients with PC are initially responsive to androgen deprivation therapy; however, the majority of cases are either hormone-sensitive PC or castration-resistant PC. Current therapeutic protocols follow the evolution of PC, a continuously progressive process involving a combination of widespread genomic alterations. These genomic alterations are either hereditary germline mutations, such as mutations in BRCA2, or specific only to tumor cells (somatic). Tumor-specific genomic spectra include genomic structural rearrangements, canonical androgen response genes, and many other specific genes such as TMPRSS2-ERG fusion, SPOP/FOXA1, TP53/RB1/PTEN, and BRCA2. New evidence indicates the involvement of signaling pathways including PI3K, WNT/β-catenin, SRC, and IL-6/STAT, which have been shown to promote epithelial-mesenchymal transition cancer stem cell-like features/stemness, and neuroendocrine differentiation in PC. Over the last decade, our understanding of the genotype-phenotype relationships has been enhanced considerably. The genetic background of PC related to canonical genetic alterations and signaling pathway activation genes has shed more insight into the molecular subtype and disease landscape, resulting in a more flexible role of individual therapies targeting diverse genotypes and phenotypes.Copyright © 2024 The Authors. Published by Wolters Kluwer Health, Inc.