對131個高等級肌肉入侵性尿路上皮膀胱癌所做的這項研究(「癌症基因組圖集」 (TCGA)項目的一部分)，報告了32個基因的頻發突變，其中包括那些在細胞周期調控、染色質調控和激酶信號作用通道中所涉及的基因。
染色質調控基因在尿路上皮癌中發生突變的頻率比在迄今所研究的任何常見癌症中都高。 「頻發in-frame激發FGFR3–TACC3融合」以及與基因失活相關的病毒的表達或整合在這項研究中也被發現。重要的是，在69%的這些腫瘤中還發現了潛在的治療目標。（生物谷Bioon.com）
生物谷推薦的英文摘要
Nature doi:10.1038/nature12965
Comprehensive molecular characterization of urothelial bladder carcinoma
The Cancer Genome Atlas Research Network
Urothelial carcinoma of the bladder is a common malignancy that causes approximately 150，000 deaths per year worldwide. So far， no molecularly targeted agents have been approved for treatment of the disease. As part of The Cancer Genome Atlas project， we report here an integrated analysis of 131 urothelial carcinomas to provide a comprehensive landscape of molecular alterations. There were statistically significant recurrent mutations in 32 genes， including multiple genes involved in cell-cycle regulation， chromatin regulation， and kinase signalling pathways， as well as 9 genes not previously reported as significantly mutated in any cancer. RNA sequencing revealed four expression subtypes， two of which (papillary-like and basal/squamous-like) were also evident in microRNA sequencing and protein data. Whole-genome and RNA sequencing identified recurrent in-frame activating FGFR3–TACC3 fusions and expression or integration of several viruses (including HPV16) that are associated with gene inactivation. Our analyses identified potential therapeutic targets in 69% of the tumours， including 42% with targets in the phosphatidylinositol-3-OH kinase/AKT/mTOR pathway and 45% with targets (including ERBB2) in the RTK/MAPK pathway. Chromatin regulatory genes were more frequently mutated in urothelial carcinoma than in any other common cancer studied so far， indicating the future possibility of targeted therapy for chromatin abnormalities.