Molecular classification and diagnostics of upper urinary tract urothelial carcinoma.
Molecular classification and diagnostics of upper urinary tract urothelial carcinoma.
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DOI：
10.1016/j.ccell.2021.05.008
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发表时间：
2021-06-14
期刊：
影响因子：
50.3
通讯作者：
Ogawa, Seishi
中科院分区：
文献类型：
--
作者：
Fujii, Yoichi;Sato, Yusuke;Suzuki, Hiromichi;Kakiuchi, Nobuyuki;Yoshizato, Tetsuichi;Lenis, Andrew T.;Maekawa, Shigekatsu;Yokoyama, Akira;Takeuchi, Yasuhide;Inoue, Yoshikage;Ochi, Yotaro;Shiozawa, Yusuke;Aoki, Kosuke;Yoshida, Kenichi;Kataoka, Keisuke;Nakagawa, Masahiro M.;Nannya, Yasuhito;Makishima, Hideki;Miyakawa, Jimpei;Kawai, Taketo;Morikawa, Teppei;Shiraishi, Yuichi;Chiba, Kenichi;Tanaka, Hiroko;Nagae, Genta;Sanada, Masashi;Sugihara, Eiji;Sato, Taka-Aki;Nakagawa, Tohru;Fukayama, Masashi;Ushiku, Tetsuo;Aburatani, Hiroyuki;Miyano, Satoru;Coleman, Jonathan A.;Homma, Yukio;Solit, David B.;Kume, Haruki;Ogawa, Seishi
上尿路尿路上皮癌是常见的尿路上皮癌之一。然而，其分子发病机制知之甚少，没有有用的生物标志物可用于准确诊断和分子分类。通过涉及199个UTUC样本的综合遗传研究，我们描绘了UTUC的遗传改变景观，使遗传/分子分类。根据TP 53、MDM 2、RAS和FGFR 3的突变状态，UTUC被分为5种亚型，这些亚型具有基因表达、肿瘤位置/组织学和临床结局的离散特征，这在独立的UTUC队列中基本上被概括。尿沉渣DNA测序对UTUC有较高的诊断价值，敏感性为82.2%，特异性为100%。这些结果为更好地诊断和治疗UTUC提供了坚实的基础。基于对199例上尿路尿路上皮癌（UTUC）的综合基因组分析，Fujii等人确定了5种具有基因突变、表达、组织学和临床结局离散特征的遗传亚型，并证明了尿沉渣衍生DNA测序对UTUC非侵入性检测的高诊断价值。
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. Based on an integrated genomic analysis of 199 upper urinary tract urothelial carcinomas (UTUCs), Fujii et al. identify five genetic subtypes with discrete profile of gene mutation, expression, histology, and clinical outcome and also demonstrates a high diagnostic value of sequencing urinary sediment-derived DNA for non-invasive detection of UTUC.
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影响因子：
7.3
作者：
Gao J;Aksoy BA;Dogrusoz U;Dresdner G;Gross B;Sumer SO;Sun Y;Jacobsen A;Sinha R;Larsson E;Cerami E;Sander C;Schultz N
通讯作者：
Schultz N
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12.3
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4.3
作者：
Bendl J;Musil M;Štourač J;Zendulka J;Damborský J;Brezovský J
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影响因子：
64.5
作者：
Hoadley KA;Yau C;Wolf DM;Cherniack AD;Tamborero D;Ng S;Leiserson MDM;Niu B;McLellan MD;Uzunangelov V;Zhang J;Kandoth C;Akbani R;Shen H;Omberg L;Chu A;Margolin AA;Van't Veer LJ;Lopez-Bigas N;Laird PW;Raphael BJ;Ding L;Robertson AG;Byers LA;Mills GB;Weinstein JN;Van Waes C;Chen Z;Collisson EA;Cancer Genome Atlas Research Network;Benz CC;Perou CM;Stuart JM
通讯作者：
Stuart JM
影响因子：
64.8
作者：
Mariathasan S;Turley SJ;Nickles D;Castiglioni A;Yuen K;Wang Y;Kadel EE III;Koeppen H;Astarita JL;Cubas R;Jhunjhunwala S;Banchereau R;Yang Y;Guan Y;Chalouni C;Ziai J;Şenbabaoğlu Y;Santoro S;Sheinson D;Hung J;Giltnane JM;Pierce AA;Mesh K;Lianoglou S;Riegler J;Carano RAD;Eriksson P;Höglund M;Somarriba L;Halligan DL;van der Heijden MS;Loriot Y;Rosenberg JE;Fong L;Mellman I;Chen DS;Green M;Derleth C;Fine GD;Hegde PS;Bourgon R;Powles T
通讯作者：
Powles T