| Literature DB >> 34129823 |
Yoichi Fujii1, Yusuke Sato2, Hiromichi Suzuki3, Nobuyuki Kakiuchi4, Tetsuichi Yoshizato3, Andrew T Lenis5, Shigekatsu Maekawa6, Akira Yokoyama3, Yasuhide Takeuchi4, Yoshikage Inoue4, Yotaro Ochi3, Yusuke Shiozawa3, Kosuke Aoki3, Kenichi Yoshida3, Keisuke Kataoka7, Masahiro M Nakagawa3, Yasuhito Nannya4, Hideki Makishima4, Jimpei Miyakawa6, Taketo Kawai6, Teppei Morikawa8, Yuichi Shiraishi9, Kenichi Chiba9, Hiroko Tanaka10, Genta Nagae11, Masashi Sanada12, Eiji Sugihara13, Taka-Aki Sato13, Tohru Nakagawa14, Masashi Fukayama8, Tetsuo Ushiku8, Hiroyuki Aburatani11, Satoru Miyano15, Jonathan A Coleman5, Yukio Homma16, David B Solit17, Haruki Kume6, Seishi Ogawa18.
Abstract
Upper urinary tract urothelial carcinoma (UTUC) is one of the common urothelial cancers. Its molecular pathogenesis, however, is poorly understood, with no useful biomarkers available for accurate diagnosis and molecular classification. Through an integrated genetic study involving 199 UTUC samples, we delineate the landscape of genetic alterations in UTUC enabling genetic/molecular classification. According to the mutational status of TP53, MDM2, RAS, and FGFR3, UTUC is classified into five subtypes having discrete profiles of gene expression, tumor location/histology, and clinical outcome, which is largely recapitulated in an independent UTUC cohort. Sequencing of urine sediment-derived DNA has a high diagnostic value for UTUC with 82.2% sensitivity and 100% specificity. These results provide a solid basis for better diagnosis and management of UTUC.Entities:
Keywords: FGFR3; RAS; TP53; hypermutation; integrated molecular study; molecular classification; molecular diagnostic; transcriptome; upper urinary tract urothelial carcinoma; urothelial carcinoma
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Year: 2021 PMID： 34129823 PMCID： PMC9110171 DOI： 10.1016/j.ccell.2021.05.008
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 38.585