Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Nat Rev Dis Primers. 2023 Oct 26;9(1):58. doi: 10.1038/s41572-023-00468-9.
Bladder cancer is a global health issue with sex differences in incidence and prognosis. Bladder cancer has distinct molecular subtypes with multiple pathogenic pathways depending on whether the disease is non-muscle invasive or muscle invasive. The mutational burden is higher in muscle-invasive than in non-muscle-invasive disease. Commonly mutated genes include TERT, FGFR3, TP53, PIK3CA, STAG2 and genes involved in chromatin modification. Subtyping of both forms of bladder cancer is likely to change considerably with the advent of single-cell analysis methods. Early detection signifies a better disease prognosis; thus, minimally invasive diagnostic options are needed to improve patient outcomes. Urine-based tests are available for disease diagnosis and surveillance, and analysis of blood-based cell-free DNA is a promising tool for the detection of minimal residual disease and metastatic relapse. Transurethral resection is the cornerstone treatment for non-muscle-invasive bladder cancer and intravesical therapy can further improve oncological outcomes. For muscle-invasive bladder cancer, radical cystectomy with neoadjuvant chemotherapy is the standard of care with evidence supporting trimodality therapy. Immune-checkpoint inhibitors have demonstrated benefit in non-muscle-invasive, muscle-invasive and metastatic bladder cancer. Effective management requires a multidisciplinary approach that considers patient characteristics and molecular disease characteristics.
膀胱癌是一个全球性的健康问题，其发病率和预后存在性别差异。膀胱癌有明显的分子亚型，其发病机制有多种途径，取决于疾病是非肌层浸润性还是肌层浸润性。肌层浸润性膀胱癌的突变负担高于非肌层浸润性膀胱癌。常见的突变基因包括 TERT、FGFR3、TP53、PIK3CA、STAG2 和参与染色质修饰的基因。随着单细胞分析方法的出现，两种形式的膀胱癌的亚型分类可能会发生很大变化。早期检测意味着更好的疾病预后；因此，需要微创诊断方法来改善患者的预后。基于尿液的检测可用于疾病的诊断和监测，基于血液的游离 DNA 分析是检测微小残留病和转移性复发的有前途的工具。经尿道膀胱肿瘤切除术是治疗非肌层浸润性膀胱癌的基石，膀胱内治疗可以进一步提高肿瘤学结果。对于肌层浸润性膀胱癌，新辅助化疗联合根治性膀胱切除术是标准治疗方法，三联疗法有证据支持。免疫检查点抑制剂已在非肌层浸润性、肌层浸润性和转移性膀胱癌中显示出获益。有效的管理需要多学科的方法，需要考虑患者的特征和分子疾病特征。
