Detection of low frequency FGFR3 mutations in the urine of bladder cancer patients using next-generation deep sequencing

Open Access Journal of Urology

Volumn 4, Issue 1, 2012, Pages 33-40

  Millholland, John M ^a   Li, Shuqiang ^a   Fernandez, Cecilia A ^a   Shuber, Anthony P ^a  

^a Predictive Biosciences Inc   (United States)

Author keywords

Bladder cancer; FGFR3; Mutation; Sequencing; Single molecule; Urine

Indexed keywords

GENOMIC DNA;

ANALYTIC METHOD; ARTICLE; BLADDER CANCER; CANCER PATIENT; CANCER TISSUE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EXON; FGFR3 GENE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; ULTRA DEEP AMPLICON SEQUENCE TECHNOLOGY; URINALYSIS;

EID: 84864112887     PISSN: None     EISSN: 11791551     Source Type: Journal    
DOI: 10.2147/RRU.S32736     Document Type: Article

References (20)

1. Siegel R, Ward E, Brawley O, Jemal A. Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths. CA Cancer J Clin. 2011;61(4):212-236.
2. Billerey C, Chopin D, Aubriot-Lorton MH, et al. Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumors. Am J Pathol. 2001;158(6):1955-1959.
3. Cappellen D, De Oliveira C, Ricol D, et al. Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat Genet. 1999;23(1):18-20.
4. van Rhijn B W, Lurkin I, Radvanyi F, Kirkels WJ, van der Kwast TH, Zwarthoff EC. The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate. Cancer Res. 2001;61(4):1265-1268.
5. van Rhijn B W, Vis AN, van der Kwast TH, et al. Molecular grading of urothelial cell carcinoma with fibroblast growth factor receptor 3 and MIB-1 is superior to pathologic grade for the prediction of clinical outcome. J Clin Oncol. 2003;21(10):1912-1921.
6. van Oers JM, Lurkin I, van Exsel AJ, et al. A simple and fast method for the simultaneous detection of nine fbroblast growth factor receptor 3 mutations in bladder cancer and voided urine. Clin Cancer Res. 2005;11(21):7743-7748.
7. Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 2011;39 Database issue:D945-D950.
8. Fernandez CA, Millholland JM, Zwarthoff EC, Feldman AS, Karnes RJ, Shuber A P. A noninvasive multi-analyte diagnostic assay: combining protein and DNA markers to stratify bladder cancer patients. Research and Reports in Urology. 2012;4:17-26.
9. Zuiverloon TC, Tjin SS, Busstra M, Bangma CH, Boeve ER, Zwarthoff EC. Optimization of nonmuscle invasive bladder cancer recurrence detection using a urine based FGFR3 mutation assay. J Urol. 2011;186(2):707-712.
10. Hernandez S, Lopez-Knowles E, Lloreta J, et al. Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas. J Clin Oncol. 2006;24(22):3664-3671.
11. Junker K, van Oers JM, Zwarthoff EC, Kania I, Schubert J, Hartmann A. Fibroblast growth factor receptor 3 mutations in bladder tumors correlate with low frequency of chromosome alterations. Neoplasia. 2008;10(1):1-7.
12. van Oers JM, Wild PJ, Burger M, et al. FGFR3 mutations and a normal CK20 staining pattern defne low-grade noninvasive urothelial bladder tumours. Eur Urol. 2007;52(3):760-768.
13. van Rhijn B W, Lurkin I, Chopin DK, et al. Combined microsatellite and FGFR3 mutation analysis enables a highly sensitive detection of urothelial cell carcinoma in voided urine. Clin Cancer Res. 2003;9(1):257-263.
14. Diehl F, Schmidt K, Durkee KH, et al. Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patients. Gastroenterolog y. 2008;135(2):489-498.
15. Miyake M, Sugano K, Kawashima K, et al. Sensitive detection of FGFR3 mutations in bladder cancer and urine sediments by peptide nucleic acid-mediated real-time PCR clamping. Biochem Biophys Res Commun. 2007;362(4):865-871.
16. Junker K, Wolf M, Schubert J. Molecular clonal analysis of recurrent bladder cancer. Oncol Rep. 2005;14(2):319-323.
17. Karnes RJ, Fernandez CA, Shuber AP. A non-invasive multianalyte urine based diagnostic assay for urothelial cancer of the bladder in the evaluation of hematuria. Mayo Clinic Proceedings. In Press.
18. Issaq HJ, Waybright TJ, Veenstra TD. Cancer biomarker discovery: opportunities and pitfalls in analytical methods. Electrophoresis. 2011;32(9):967-975.
19. Lotan Y, Roehrborn CG. Sensitivity and specificity of commonly available bladder tumor markers versus cytology: results of a comprehensive literature review and meta-analyses. Urology. 2003;61(1):109-118.
20. Tilki D, Burger M, Dalbagni G, et al. Urine markers for detection and surveillance of non-muscle-invasive bladder cancer. Eur Urol. 2011;60(3):484-492.