The evolving genomic landscape of urothelial carcinoma

被引：87

作者：

Glaser, Alexander P. ^{[1
]}

Fantini, Damiano ^{[1
]}

Shilatifard, Ali ^{[1
]}

Schaeffer, Edward M. ^{[1
]}

Meeks, Joshua J. ^{[1
]}

机构：

[1] Northwestern Univ, Dept Urol, 303 E Chicago Ave,Tarry 16-703, Chicago, IL 60611 USA

来源：

NATURE REVIEWS UROLOGY | 2017年 / 14卷 / 04期

关键词：

BACILLUS-CALMETTE-GUERIN; BLADDER-CANCER; DNA METHYLATION; PROGNOSTIC-FACTORS; PHASE-I; FGFR3; MUTATIONS; GENE FUSIONS; HIGH-RISK; SMOKING; LAPATINIB;

D O I：

10.1038/nrurol.2017.11

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Survival of patients with urothelial carcinoma (including bladder cancer and upper tract urothelial carcinoma) is limited by our current approaches to staging, surgery and chemotherapy. Large-scale, next-generation sequencing collaborations, such as The Cancer Genome Atlas, have already identified drivers and vulnerabilities of urothelial carcinoma. This disease has a high degree of mutational heterogeneity and a high frequency of somatic mutations compared with other solid tumours, potentially resulting in an increased neoantigen burden. Mutational heterogeneity is mediated by multiple factors including the apolipoprotein B mRNA editing enzyme catalytic polypeptide family of enzymes, smoking exposure, viral integrations, and intragene and intergene fusion proteins. The mutational landscape of urothelial carcinoma, including specific mutations in pathways and driver genes, such as FGFR3, ERBB2, PIK3CA, TP53, and STAG2, affects tumour aggressiveness and response to therapy. The next generation of therapies for urothelial carcinoma will be based on patient-specific targetable mutations found in individual tumours. This personalized-medicine approach to urothelial carcinoma has already resulted in unique clinicaltrial design and has the potential to improve patient outcomes and survival.

引用

页码：215 / 229

页数：15

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