TY - JOUR
T1 - Molecular classification and diagnostics of upper urinary tract urothelial carcinoma
AU - Fujii, Yoichi
AU - Sato, Yusuke
AU - Suzuki, Hiromichi
AU - Kakiuchi, Nobuyuki
AU - Yoshizato, Tetsuichi
AU - Lenis, Andrew T.
AU - Maekawa, Shigekatsu
AU - Yokoyama, Akira
AU - Takeuchi, Yasuhide
AU - Inoue, Yoshikage
AU - Ochi, Yotaro
AU - Shiozawa, Yusuke
AU - Aoki, Kosuke
AU - Yoshida, Kenichi
AU - Kataoka, Keisuke
AU - Nakagawa, Masahiro M.
AU - Nannya, Yasuhito
AU - Makishima, Hideki
AU - Miyakawa, Jimpei
AU - Kawai, Taketo
AU - Morikawa, Teppei
AU - Shiraishi, Yuichi
AU - Chiba, Kenichi
AU - Tanaka, Hiroko
AU - Nagae, Genta
AU - Sanada, Masashi
AU - Sugihara, Eiji
AU - Sato, Taka Aki
AU - Nakagawa, Tohru
AU - Fukayama, Masashi
AU - Ushiku, Tetsuo
AU - Aburatani, Hiroyuki
AU - Miyano, Satoru
AU - Coleman, Jonathan A.
AU - Homma, Yukio
AU - Solit, David B.
AU - Kume, Haruki
AU - Ogawa, Seishi
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/6/14
Y1 - 2021/6/14
N2 - 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.
AB - 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.
KW - FGFR3
KW - RAS
KW - TP53
KW - hypermutation
KW - integrated molecular study
KW - molecular classification
KW - molecular diagnostic
KW - transcriptome
KW - upper urinary tract urothelial carcinoma
KW - urothelial carcinoma
UR - https://www.scopus.com/pages/publications/85107591334
UR - https://www.scopus.com/pages/publications/85107591334#tab=citedBy
U2 - 10.1016/j.ccell.2021.05.008
DO - 10.1016/j.ccell.2021.05.008
M3 - Article
C2 - 34129823
AN - SCOPUS:85107591334
SN - 1535-6108
VL - 39
SP - 793-809.e8
JO - Cancer Cell
JF - Cancer Cell
IS - 6
ER -
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