癌症。

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Lars Dyrskjøt, Donna E Hansel, Jason A Efstathiou, Margaret A Knowles, Matthew D Galsky, Jeremy Teoh, Dan Theodorescu
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引用次数: 0

摘要

癌症是一个全球性的健康问题,其发病率和预后存在性别差异。癌症具有不同的分子亚型,其致病途径多种多样,这取决于该疾病是非肌肉侵袭性还是肌肉侵袭性。肌肉侵袭性疾病的突变负担高于非肌肉侵袭性病变。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,两种形式的癌症的亚型可能会发生显著变化。早期发现意味着更好的疾病预后;因此,需要微创诊断选项来改善患者的预后。基于尿液的检测可用于疾病诊断和监测,基于血液的无细胞DNA分析是检测最小残留疾病和转移复发的有前途的工具。经尿道切除术是治疗非肌肉浸润性膀胱癌症的基石,膀胱内治疗可以进一步改善肿瘤结果。对于肌肉浸润性膀胱癌症,新辅助化疗的根治性膀胱切除术是标准的治疗方法,有证据支持三联疗法。免疫检查点抑制剂已证明对非肌肉浸润性、肌肉浸润性和转移性膀胱癌症有益。有效的管理需要考虑患者特征和分子疾病特征的多学科方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Bladder cancer.

Bladder cancer.

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.

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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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