Molecular classification and diagnostics of upper urinary tract urothelial carcinoma Journal Article


Authors: Fujii, Y.; Sato, Y.; Suzuki, H.; Kakiuchi, N.; Yoshizato, T.; Lenis, A. T.; Maekawa, S.; Yokoyama, A.; Takeuchi, Y.; Inoue, Y.; Ochi, Y.; Shiozawa, Y.; Aoki, K.; Yoshida, K.; Kataoka, K.; Nakagawa, M. M.; Nannya, Y.; Makishima, H.; Miyakawa, J.; Kawai, T.; Morikawa, T.; Shiraishi, Y.; Chiba, K.; Tanaka, H.; Nagae, G.; Sanada, M.; Sugihara, E.; Sato, T. A.; Nakagawa, T.; Fukayama, M.; Ushiku, T.; Aburatani, H.; Miyano, S.; Coleman, J. A.; Homma, Y.; Solit, D. B.; Kume, H.; Ogawa, S.
Article Title: Molecular classification and diagnostics of upper urinary tract urothelial carcinoma
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. Copyright © 2021 Elsevier Inc. All rights reserved.
Keywords: urothelial carcinoma; transcriptome; ras; hypermutation; tp53; molecular classification; upper urinary tract urothelial carcinoma; fgfr3; integrated molecular study; molecular diagnostic
Journal Title: Cancer Cell
Volume: 39
Issue: 6
ISSN: 1535-6108
Publisher: Cell Press  
Date Published: 2021-06-14
Start Page: 793
End Page: 809.e8
Language: English
DOI: 10.1016/j.ccell.2021.05.008
PUBMED: 34129823
PROVIDER: scopus
PMCID: PMC9110171
DOI/URL:
Notes: Article -- Export Date: 1 July 2021 -- Source: Scopus
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  1. Jonathan Coleman
    341 Coleman
  2. David Solit
    779 Solit
  3. Andrew Thomas Lenis
    23 Lenis