Department of Urology, The George Washington University School of Medicine & Health Sciences, Washington, DC 20052, USA.
Curr Oncol. 2024 Nov 6;31(11):6909-6937. doi: 10.3390/curroncol31110511.
The genetic landscape of urologic cancers has evolved with the identification of actionable mutations that impact diagnosis, prognosis, and therapeutic strategies. This narrative review consolidates existing literature on genetic mutations across key urologic cancers, including bladder, renal, prostate, upper tract urothelial, testicular, and penile. The review highlights mutations in DNA damage repair genes, such as BRCA1/2 and PTEN, as well as pathway alterations like FGFR and PD-L1 overexpression. These mutations influence tumor behavior and therapeutic outcomes, emphasizing the need for precision oncology approaches. Molecular profiling, through tools like next-generation sequencing, has revolutionized patient care by enabling targeted treatment strategies, especially in cancers with distinct molecular subtypes such as luminal or basal bladder cancer and clear cell renal carcinoma. Emerging therapies, including FGFR inhibitors and immune checkpoint blockade, offer new treatment avenues, although resistance mechanisms remain a challenge. We also emphasize the importance of biomarker identification for personalized management, especially in metastatic settings where treatment intensification is often required. Future research is needed to further elucidate our understanding of the genetics affecting urologic cancers, which will help develop novel, individualized therapies to enhance oncologic outcomes.
泌尿系统癌症的遗传特征随着可影响诊断、预后和治疗策略的靶向突变的鉴定而不断演变。本综述汇总了泌尿系统关键癌症(包括膀胱癌、肾癌、前列腺癌、上尿路上皮癌、睾丸癌和阴茎癌)中遗传突变的现有文献。该综述重点介绍了 DNA 损伤修复基因(如 BRCA1/2 和 PTEN)中的突变,以及 FGFR 和 PD-L1 过表达等通路改变。这些突变影响肿瘤行为和治疗结果,强调了精准肿瘤学方法的必要性。通过下一代测序等工具进行的分子谱分析通过使靶向治疗策略成为可能,彻底改变了患者的护理方式,特别是在具有不同分子亚型的癌症中,如 luminal 或基底膀胱癌和透明细胞肾细胞癌。新兴疗法,包括 FGFR 抑制剂和免疫检查点阻断,提供了新的治疗途径,尽管耐药机制仍然是一个挑战。我们还强调了确定生物标志物以进行个性化管理的重要性,特别是在需要强化治疗的转移性环境中。需要进一步的研究来阐明影响泌尿系统癌症的遗传学,这将有助于开发新的、个体化的治疗方法,以提高肿瘤学结果。