دورية أكاديمية
أعرض في EDS

Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

التفاصيل البيبلوغرافية
العنوان: Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.
المؤلفون: Eich ML; Department of Pathology, The University of Alabama at Birmingham, Birmingham, AL, USA., Rodriguez Pena MDC; Department of Pathology, The University of Alabama at Birmingham, Birmingham, AL, USA., Springer SU; Howard Hughes Medical Institute, Ludwig Cancer for Cancer Genetics and Therapeutics, Baltimore, MD, USA.; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA., Taheri D; Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.; Department of Pathology, Isfahan Kidney Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Tregnago AC; Department of Pathology, Johns Hopkins University, Baltimore, MD, USA., Salles DC; Department of Pathology, Johns Hopkins University, Baltimore, MD, USA., Bezerra SM; Department of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil.; Department of Pathology, Rede D'OR-São Luiz, Sao Paulo, Brazil., Cunha IW; Department of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil., Fujita K; Department of Urology, Osaka University, Osaka, Japan., Ertoy D; Department of Pathology, Hacettepe University, Ankara, Turkey., Bivalacqua TJ; Department of Urology, Johns Hopkins University, Baltimore, MD, USA., Tomasetti C; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.; Division of Biostatistics and Bioinformatics, Department of Oncology, Sidney Kimmel Cancer Center, Baltimore, MD, USA., Papadopoulos N; Howard Hughes Medical Institute, Ludwig Cancer for Cancer Genetics and Therapeutics, Baltimore, MD, USA.; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA., Kinzler KW; Howard Hughes Medical Institute, Ludwig Cancer for Cancer Genetics and Therapeutics, Baltimore, MD, USA.; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA., Vogelstein B; Howard Hughes Medical Institute, Ludwig Cancer for Cancer Genetics and Therapeutics, Baltimore, MD, USA.; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA., Netto GJ; Department of Pathology, The University of Alabama at Birmingham, Birmingham, AL, USA. gnetto@uabmc.edu.
المصدر: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2019 Oct; Vol. 32 (10), pp. 1544-1550. Date of Electronic Publication: 2019 Apr 25.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 8806605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0285 (Electronic) Linking ISSN: 08933952 NLM ISO Abbreviation: Mod Pathol Subsets: MEDLINE
أسماء مطبوعة: Publication: 2023- : [New York] : Elsevier Inc.
Original Publication: Baltimore, MD : Williams & Wilkins, c1988-
مواضيع طبية MeSH: Mutation* , Promoter Regions, Genetic*, Carcinoma, Transitional Cell/*genetics , Urinary Bladder/*pathology , Urinary Bladder Neoplasms/*genetics, Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Carcinoma, Transitional Cell/pathology ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Mutation Rate ; Urinary Bladder Neoplasms/pathology
مستخلص: Noninvasive approaches for early detection of bladder cancer are actively being investigated. We recently developed a urine- based molecular assay for the detection and surveillance of bladder neoplasms (UroSEEK). UroSEEK is designed to detect alterations in 11 genes that include most common genetic alterations in bladder cancer. In this study, we analyzed 527 cases, including 373 noninvasive and 154 invasive urothelial carcinomas of bladder from transurethral resections or cystectomies performed at four institutions (1991-2016). Two different mutational analysis assays of a representative tumor area were performed: first, a singleplex PCR assay for evaluation of the TERT promoter region (TERTSeqS) and second, a multiplex PCR assay using primers designed to amplify regions of interest of 10 (FGFR3, PIK3CA, TP53, HRAS, KRAS, ERBB2, CDKN2A, MET, MLL, and VHL) genes (UroSeqS). Overall, 92% of all bladder tumors were positive for at least one genetic alteration in the UroSEEK panel. We found TERT promoter mutations in 77% of low-grade noninvasive papillary carcinomas, with a relatively lower incidence of 65% in high-grade noninvasive papillary carcinomas and carcinomas in situ; p = 0.017. Seventy-two percent of pT1 and 63% of muscle-invasive bladder tumors harbored TERT promoter mutations with g.1295228C>T alteration being the most common in all groups. FGFR3 and PIK3CA mutations were more frequent in low-grade noninvasive papillary carcinomas compared with high-grade noninvasive papillary carcinomas and carcinomas in situ (p < 0.0001), while the opposite was true for TP53 (p < 0.0001). Significantly higher rates of TP53 and CDKN2A mutation rates (p = 0.005 and 0.035, respectively) were encountered in muscle-invasive bladder tumors compared with those of pT1 stage. The overwhelming majority of all investigated tumors showed at least one mutation among UroSEEK assay genes, confirming the comprehensive coverage of the panel and supporting its potential utility as a noninvasive urine-based assay.
التعليقات: Comment in: Transl Androl Urol. 2019 Dec;8(Suppl 5):S493-S496. (PMID: 32042629)
Comment in: Transl Androl Urol. 2019 Dec;8(Suppl 5):S546-S549. (PMID: 32042643)
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معلومات مُعتمدة: P30 CA006973 United States CA NCI NIH HHS; P30 CA077598 United States CA NCI NIH HHS; R01 ES019564 United States ES NIEHS NIH HHS; T32 GM007309 United States GM NIGMS NIH HHS
المشرفين على المادة: 0 (Biomarkers, Tumor)
تواريخ الأحداث: Date Created: 20190428 Date Completed: 20200625 Latest Revision: 20230210
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6872189
DOI: 10.1038/s41379-019-0276-y
PMID: 31028363
قاعدة البيانات: MEDLINE
الوصف
تدمد:1530-0285
DOI:10.1038/s41379-019-0276-y