Bladder cancer

被引:238
作者
Dyrskjot, Lars [1 ,2 ]
Hansel, Donna E. [3 ]
Efstathiou, Jason A. [4 ]
Knowles, Margaret A. [5 ]
Galsky, Matthew D. [6 ]
Teoh, Jeremy [7 ]
Theodorescu, Dan [8 ,9 ,10 ]
机构
[1] Aarhus Univ Hosp, Dept Mol Med, Aarhus, Denmark
[2] Aarhus Univ, Dept Clin Med, Aarhus, Denmark
[3] Univ Texas MD Anderson Canc Ctr, Div Pathol & Lab Med, Houston, TX USA
[4] Harvard Med Sch, Massachusetts Gen Hosp, Dept Radiat Oncol, Boston, MA USA
[5] St James Univ Hosp, Leeds Inst Med Res St Jamess, Div Mol Med, Leeds, England
[6] Icahn Sch Med Mt Sinai, Tish Canc Inst, Div Hematol & Med Oncol, New York, NY USA
[7] Chinese Univ Hong Kong, SH Ho Urol Ctr, Dept Surg, Hong Kong, Peoples R China
[8] Cedars Sinai Med Ctr, Dept Urol, Los Angeles, CA 90048 USA
[9] Cedars Sinai Med Ctr, Dept Pathol & Lab Med, Los Angeles, CA 90048 USA
[10] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Los Angeles, CA 90048 USA
关键词
QUALITY-OF-LIFE; METASTATIC UROTHELIAL CARCINOMA; TRANSITIONAL-CELL-CARCINOMA; EMISSION TOMOGRAPHY/COMPUTED TOMOGRAPHY; BACILLUS-CALMETTE-GUERIN; PHASE-III TRIAL; CISPLATIN-INELIGIBLE PATIENTS; GEMCITABINE PLUS CISPLATIN; ADJUVANT RADIATION-THERAPY; LONG-TERM OUTCOMES;
D O I
10.1038/s41572-023-00468-9
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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. Urothelial bladder cancer has various pathogenic pathways and comprises distinct molecular subtypes. This Primer reviews the epidemiology of the disease with a focus on risk factors, discusses mechanisms of pathogenesis, diagnosis and management at different disease stages, and highlights patient quality of life and open research questions.
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页数:21
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