A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in tsc2 and pik3r1

PLoS ONE

Volumn 6, Issue 4, 2011, Pages

  Sjödahl, Gottfrid ^a   Lauss, Martin ^a   Gudjonsson, Sigurdur ^b   Liedberg, Fredrik ^b,c   Halldén, Christer ^a   Chebil, Gunilla ^d   Månsson, Wiking ^b   Höglund, Mattias ^a   Lindgren, David ^a  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c Vaxjo County Hospital   (Sweden)

^d HELSINGBORG HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

A RAF KINASE; APC PROTEIN; B RAF KINASE; BETA CATENIN; FIBROBLAST GROWTH FACTOR RECEPTOR 3; HRAS PROTEIN; K RAS PROTEIN; MAMMALIAN TARGET OF RAPAMYCIN; NRAS PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHOTRANSFERASE; PROTEIN AKT1; PROTEIN KINASE B; PROTEIN P53; PROTEIN PIK3CA; PROTEIN PIK3R1; RAF PROTEIN; RAS PROTEIN; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR PROTEIN; UNCLASSIFIED DRUG; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CONTROLLED STUDY; GENE ACTIVATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE INACTIVATION; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; SIGNAL TRANSDUCTION; TRANSITIONAL CELL CARCINOMA; BLADDER TUMOR; GENETICS; MUTATION;

HUMANS; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; TUMOR SUPPRESSOR PROTEINS; URINARY BLADDER NEOPLASMS;

EID: 79955012093     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0018583     Document Type: Article

References (47)

1. Bakkar AA, Wallerand H, Radvanyi F, Lahaye JB, Pissard S, et al. (2003) FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder. Cancer Res 1;63 (23): 8108-12.
2. van Rhijn BW, van der Kwast TH, Vis AN, Kirkels WJ, Boevé ER, et al. (2004) FGFR3 and P53 characterize alternative genetic pathways in the pathogenesis of urothelial cell carcinoma. Cancer Res 15;64 (6): 1911-4.
3. Lindgren D, Frigyesi A, Gudjonsson S, Sjödahl G, Hallden C, et al. (2010) Combined gene expression and genomic profiling define two intrinsic molecular subtypes of urothelial carcinoma and gene signatures for molecular grading and outcome. Cancer Res 1;70 (9): 3463-72.
4. Platt FM, Hurst CD, Taylor CF, Gregory WM, Harnden P, et al. (2009) Spectrum of phosphatidylinositol 3-kinase pathway gene alterations in bladder cancer. Clin Cancer Res 1;15 (19): 6008-17.
5. Boulalas I, Zaravinos A, Karyotis I, Delakas D, Spandidos DA, (2009) Activation of RAS family genes in urothelial carcinoma. J Urol 181 (5): 2312-9.
6. Boulalas I, Zaravinos A, Delakas D, Spandidos DA, (2009) Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. Int J Biol Markers 24 (1): 17-21.
7. Askham JM, Platt F, Chambers PA, Snowden H, Taylor CF, et al. (2010) AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate with E17K. Oncogene 7;29 (1): 150-5.
8. Heidenblad M, Lindgren D, Jonson T, Liedberg F, Veerla S, et al. (2008) Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors. BMC Med Genomics 31;1: 3.
9. Hidalgo M, Rowinsky EK, (2000) The rapamycin-sensitive signal transduction pathway as a target for cancer therapy. Oncogene 27;19 (56): 6680-6.
10. Gust KM, So AI, (2009) The role of mTOR in bladder cancer. Cancer Biol Ther 8 (24): 2348-50.
11. Hansel DE, Platt E, Orloff M, Harwalker J, Sethu S, et al. (2010) Mammalian Target of Rapamycin (mTOR) Regulates Cellular Proliferation and Tumor Growth in Urothelial Carcinoma. Am J Pathol 176 (6): 3062-72.
12. Kastritis E, Murray S, Kyriakou F, Horti M, Tamvakis N, et al. (2009) Somatic mutations of adenomatous polyposis coli gene and nuclear b-catenin accumulation have prognostic significance in invasive urothelial carcinomas: evidence for Wnt pathway implication. Int J Cancer 1;124 (1): 103-8.
13. Shiina H, Igawa M, Shigeno K, Terashima M, Deguchi M, et al. (2002) Beta-catenin mutations correlate with over expression of C-myc and cyclin D1 Genes in bladder cancer. J Urol 168 (5): 2220-6.
14. Zhu X, Kanai Y, Saito A, Kondo Y, Hirohashi S, (2000) Aberrant expression of beta-catenin and mutation of exon 3 of the beta-catenin gene in renal and urothelial carcinomas. Pathol Int 50 (12): 945-52.
15. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods Apr;7 (4): 248-9.
16. Hernández S, López-Knowles E, Lloreta J, Kogevinas M, Amorós A, et al. (2006) Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas. J Clin Oncol 1;24 (22): 3664-71.
17. Van Rhijn BW, Vis AN, van der Kwast TH, Kirkels WJ, Radvanyi F, et al. (2003) 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 15;21 (10): 1912-21.
18. Kompier LC, Lurkin I, van der Aa MN, van Rhijn BW, van der Kwast TH, et al. (2010) FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy. PLoS One 3;5 (11): e13821.
19. Kalinsky K, Jacks LM, Heguy A, Patil S, Drobnjak M, et al. (2009) PIK3CA mutation associates with improved outcome in breast cancer. Clin Cancer Res 15;15 (16): 5049-59.
20. Lopez-Knowles E, Hernandez S, Malats N, Kogevinas M, Lloreta J, et al. (2006) PIK3CA Mutations Are an Early Genetic Alteration Associated with FGFR3 Mutations in Superficial Papillary Bladder Tumors. Cancer Res 66 (15): 7401-4.
21. Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, (2005) FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. Oncogene 4;24 (33): 5218-25.
22. Edlundh-Rose E, Egyházi S, Omholt K, Månsson-Brahme E, Platz A, et al. (2006) NRAS and BRAF mutations in melanoma tumours in relation to clinical characteristics: a study based on mutation screening by pyrosequencing. Melanoma Res 16 (6): 471-8.
23. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, et al. (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39: 1013-1017.
24. Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, et al. (2010) Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. J Med Genet 47 (10): 721-2.
25. Saal LH, Holm K, Maurer M, Memeo L, Su T, et al. (2005) PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Cancer Res 1;65 (7): 2554-9.
26. Lee JW, Soung YH, Kim SY, Lee HW, Park WS, et al. (2005) PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene 17;24 (8): 1477-80.
27. Chalhoub N, Baker SJ, (2009) PTEN and the PI3-kinase pathway in cancer. Annu Rev Pathol 4: 127-50.
28. Jaiswal BS, Janakiraman V, Kljavin NM, Chaudhuri S, Stern HM, et al. (2009) Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation. Cancer Cell 8;16 (6): 463-74.
29. Cairns P, Evron E, Okami K, Halachmi N, Esteller M, et al. (1998) Point mutation and homozygous deletion of PTEN/MMAC1 in primary bladder cancers. Oncogene 18;16 (24): 3215-8.
30. Aveyard JS, Skilleter A, Habuchi T, Knowles MA, (1999) Somatic mutation of PTEN in bladder carcinoma. Br J Cancer 80 (5-6): 904-8.
31. Puzio-Kuter AM, Castillo-Martin M, Kinkade CW, Wang X, Shen TH, et al. (2009) Inactivation of p53 and Pten promotes invasive bladder cancer. Genes Dev 15;23 (6): 675-80.
32. Taniguchi CM, Winnay J, Kondo T, Bronson RT, Guimaraes AR, et al. (2010) The phosphoinositide 3-kinase regulatory subunit p85alpha can exert tumor suppressor properties through negative regulation of growth factor signaling. Cancer Res 1;70 (13): 5305-15.
33. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, et al. (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 26;321 (5897): 1807-12.
34. Olderøy G, Daehlin L, Ogreid D, (1998) Low-frequency mutation of Ha-ras and Ki-ras oncogenes in transitional cell carcinoma of the bladder. Anticancer Res 18 (4A): 2675-8.
35. Cattan N, Saison-Behmoaras T, Mari B, Mazeau C, Amiel JL, et al. (2000) Screening of human bladder carcinomas for the presence of Ha-ras codon 12 mutation. Oncol Rep 7 (3): 497-500.
36. Przybojewska B, Jagiello A, Jalmuzna P, (2000) H-RAS, K-RAS, and N-RAS gene activation in human bladder cancers. Cancer Genet Cytogenet 121 (1): 73-7.
37. Stoehr R, Krieg RC, Knuechel R, Hofstaedter F, Pilarsky C, et al. (2002) No evidence for involvement of beta-catenin and APC in urothelial carcinomas. Int J Oncol 20 (5): 905-11.
38. Shiina H, Igawa M, Urakami S, Shigeno K, Yoneda T, et al. (2001) Alterations of beta- and gamma-catenin in N-butyl-N-(-4-hydroxybutyl)nitrosamine-induced murine bladder cancer. Cancer Res 1;61 (19): 7101-9.
39. Rosner M, Freilinger A, Hengstschläger M, (2004) Proteins interacting with the tuberous sclerosis gene products. Amino Acids Oct;27 (2): 119-28.
40. Inoki K, Ouyang H, Zhu T, Lindvall C, Wang Y, et al. (2006) TSC2 integrates Wnt and energy signals via a coordinated phosphorylation by AMPK and GSK3 to regulate cell growth. Cell 8;126 (5): 955-68.
41. Buller CL, Loberg RD, Fan MH, Zhu Q, Park JL, et al. (2008) A GSK-3/TSC2/mTOR pathway regulates glucose uptake and GLUT1 glucose transporter expression. Am J Physiol Cell Physiol 295 (3): C836-43.
42. Mak BC, Takemaru K, Kenerson HL, Moon RT, Yeung RS, (2003) The tuberin-hamartin complex negatively regulates beta-catenin signaling activity. J Biol Chem 21;278 (8): 5947-51.
43. Yu K, Shi C, Toral-Barza L, Lucas J, Shor B, et al. (2010) Beyond rapalog therapy: preclinical pharmacology and antitumor activity of WYE-125132, an ATP-competitive and specific inhibitor of mTORC1 and mTORC2. Cancer Res 15;70 (2): 621-31.
44. Garcia JA, Danielpour D, (2008) Mammalian target of rapamycin inhibition as a therapeutic strategy in the management of urologic malignancies. Mol Cancer Ther 7 (6): 1347-54.
45. Seager CM, Puzio-Kuter AM, Patel T, Jain S, Cordon-Cardo C, et al. (2009) Intravesical delivery of rapamycin suppresses tumorigenesis in a mouse model of progressive bladder cancer. Cancer Prev Res 2 (12): 1008-14.
46. Svirshchevskaya EV, Mariotti J, Wright MH, Viskova NY, Telford W, et al. (2008) Rapamycin delays growth of Wnt-1 tumors in spite of suppression of host immunity. BMC Cancer 21;8: 176.
47. Hou G, Zhang Q, Wang L, Liu M, Wang J, et al. (2010) mTOR inhibitor rapamycin alone or combined with cisplatin inhibits growth of esophageal squamous cell carcinoma in nude mice. Cancer Lett 28;290 (2): 248-54.