Renal cancer biomarkers: The promise of personalized care

BMC Medicine

Volumn 10, Issue , 2012, Pages 1-10

  Vasudev, Naveen S ^a   Selby, Peter J ^b   Banks, Rosamonde E ^b  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Biomarkers; epigenomics; genomics; renal cell carcinoma; transcriptomics

Indexed keywords

BIOLOGICAL MARKER; BRCA1 PROTEIN; C REACTIVE PROTEIN; CYTOCHROME P450 3A5; EVEROLIMUS; FIBROBLAST GROWTH FACTOR 2; HYPOCALCIN; INTERLEUKIN 8; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MICRORNA; MULTIDRUG RESISTANCE PROTEIN 1; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PLATELET DERIVED GROWTH FACTOR; SECRETED FRIZZLED RELATED PROTEIN 1; SHORT HAIRPIN RNA; SMALL INTERFERING RNA; SOMATOMEDIN B; SUNITINIB; VASCULOTROPIN; VASCULOTROPIN RECEPTOR; VERSICAN;

BLADDER CANCER; CANCER PROGNOSIS; CANCER SURGERY; CANCER SURVIVAL; CHROMOSOME 3P; CHROMOSOME 5Q; DNA METHYLATION; EPIGENETICS; EPITHELIAL MESENCHYMAL TRANSITION; FATTY ACID METABOLISM; FOLLOW UP; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; KIDNEY CANCER; KIDNEY CARCINOMA; LOSS OF FUNCTION MUTATION; META ANALYSIS (TOPIC); NEPHRECTOMY; OVERALL SURVIVAL; PATIENT CARE; PERSONALIZED MEDICINE; PROGRESSION FREE SURVIVAL; PROTEIN EXPRESSION; REVIEW; RNA INTERFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TRANSCRIPTOMICS; GENOMICS; KIDNEY TUMOR; METHODOLOGY;

BIOLOGICAL MARKERS; EPIGENOMICS; GENOMICS; HUMANS; KIDNEY NEOPLASMS;

EID: 84890129812     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/1741-7015-10-112     Document Type: Review

References (66)

1. Cancer Research UK: Kidney cancer statistics. 2012, http://info.cancerresearchuk.org/cancerstats/types/kidney
2. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. GLOBOCAN 2008 v1.2, Cancer incidence and mortality worldwide in 2008. IARC CancerBase No. 10 [Internet] 2010, Lyon, France: International Agency for Research on Cancer., http://globocan.iarc.fr/
3. Young AC, Craven RA, Cohen D, Taylor C, Booth C, Harnden P, Cairns DA, Astuti D, Gregory W, Maher ER, Knowles MA, Joyce A, Selby PJ, Banks RE. Analysis of VHL gene alterations and their relationship to clinical parameters in sporadic conventional renal cell carcinoma. Clin Cancer Res 15:7582-7592.
4. Nickerson ML, Jaeger E, Shi Y, Durocher JA, Mahurkar S, Zaridze D, Matveev V, Janout V, Kollarova H, Bencko V, Navratilova M, Szeszenia-Dabrowska N, Mates D, Mukeria A, Holcatova I, Schmidt LS, Toro JR, Karami S, Hung R, Gerard GF, Linehan WM, Merino M, Zbar B, Boffetta P, Brennan P, Rothman N, Chow WH, Waldman FM, Moore LE. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res 2008, 14:4726-4734. 10.1158/1078-0432.CCR-07-4921, 2629664, 18676741.
5. Sun M, Shariat SF, Cheng C, Ficarra V, Murai M, Oudard S, Pantuck AJ, Zigeuner R, Karakiewicz PI. Prognostic factors and predictive models in renal cell carcinoma: a contemporary review. Eur Urol 2011, 60:644-661. 10.1016/j.eururo.2011.06.041, 21741163.
6. Motzer RJ, Hutson TE, Tomczak P, Michaelson MD, Bukowski RM, Rixe O, Oudard S, Negrier S, Szczylik C, Kim ST, Chen I, Bycott PW, Baum CM, Figlin RA. Sunitinib versus interferon alfa in metastatic renal-cell carcinoma. N Engl J Med 2007, 356:115-124. 10.1056/NEJMoa065044, 17215529.
7. Sternberg CN, Davis ID, Mardiak J, Szczylik C, Lee E, Wagstaff J, Barrios CH, Salman P, Gladkov OA, Kavina A, Zarbá JJ, Chen M, McCann L, Pandite L, Roychowdhury DF, Hawkins RE. Pazopanib in locally advanced or metastatic renal cell carcinoma: results of a randomized phase III trial. J Clin Oncol 2010, 28:1061-1068. 10.1200/JCO.2009.23.9764, 20100962.
8. Eisengart LJ, MacVicar GR, Yang XJ. Predictors of response to targeted therapy in renal cell carcinoma. Arch Pathol Lab Med 2012, 136:490-495. 10.5858/arpa.2010-0308-RA, 22229848.
9. Vasudev NS, Banks RE. Biomarkers of renal cancer. Biomarkers in Kidney Disease 2011, 313-344. London: Elsevier, Edelstein CL, 1.
10. Stratton MR. Exploring the genomes of cancer cells: progress and promise. Science 2011, 331:1553-1558. 10.1126/science.1204040, 21436442.
11. Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabé RR, Bhan MK, Calvo F, Eerola I, Gerhard DS, Guttmacher A, Guyer M, Hemsley FM, Jennings JL, Kerr D, Klatt P, Kolar P, Kusada J, Lane DP, Laplace F, Youyong L, Nettekoven G, Ozenberger B, Peterson J, Rao TS, Remacle J, Schafer AJ, Shibata T, Stratton MR, et al. International Cancer Genome Consortium International network of cancer genome projects. Nature 2010, 464:993-998. 10.1038/nature08987, 2902243, 20393554, International Cancer Genome Consortium.
12. Boja E, Hiltke T, Rivers R, Kinsinger C, Rahbar A, Mesri M, Rodriguez H. Evolution of clinical proteomics and its role in medicine. J Proteome Res 2011, 10:66-84. 10.1021/pr100532g, 20715861.
13. Teh BT, Farber LJ, Furge K. Molecular charactersation of renal cell carcinoma. Renal cell carcinoma. Translational biology, personalized medicine, and novel therapeutic targets 2012, 91-111. New York: Springer, Figlin RA, Rathmell WK, Rini BI.
14. Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011, 469:539-542. 10.1038/nature09639, 3030920, 21248752.
15. Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, Teague J, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Forbes S, Jia M, Jones D, Knott H, Kok CY, Lau KW, Leroy C, Lin ML, McBride DJ, Maddison M, Maguire S, McLay K, Menzies A, Mironenko T, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010, 463:360-363. 10.1038/nature08672, 2820242, 20054297.
16. Peña-Llopis S, Vega-Rubín-de-Celis S, Liao A, Leng N, Pavía-Jiménez A, Wang S, Yamasaki T, Zhrebker L, Sivanand S, Spence P, Kinch L, Hambuch T, Jain S, Lotan Y, Margulis V, Sagalowsky AI, Summerour PB, Kabbani W, Wong SW, Grishin N, Laurent M, Xie XJ, Haudenschild CD, Ross MT, Bentley DR, Kapur P, Brugarolas J. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet 2012, 44:751-759. 10.1038/ng.2323, 22683710.
17. Sanjmyatav J, Steiner T, Wunderlich H, Diegmann J, Gajda M, Junker K. A specific gene expression signature characterizes metastatic potential in clear cell renal cell carcinoma. J Urol 2011, 186:289-294. 10.1016/j.juro.2011.03.033, 21600596.
18. Brannon AR, Reddy A, Seiler M, Arreola A, Moore DT, Pruthi RS, Wallen EM, Nielsen ME, Liu H, Nathanson KL, Ljungberg B, Zhao H, Brooks JD, Ganesan S, Bhanot G, Rathmell WK. Molecular stratification of clear cell renal cell carcinoma by consensus clustering reveals distinct subtypes and survival patterns. Genes Cancer 2010, 1:152-163. 10.1177/1947601909359929, 2943630,2943630, 20871783.
19. Zhao H, Ljungberg B, Grankvist K, Rasmuson T, Tibshirani R, Brooks JD. Gene expression profiling predicts survival in conventional renal cell carcinoma. PLoS Med 2006, 3:e13. 10.1371/journal.pmed.0030013, 1298943, 16318415.
20. Takahashi M, Rhodes DR, Furge KA, Kanayama H, Kagawa S, Haab BB, Teh BT. Gene expression profiling of clear cell renal cell carcinoma: gene identification and prognostic classification. Proc Natl Acad Sci USA 2001, 98:9754-9759. 10.1073/pnas.171209998, 55525, 11493696.
21. Brannon AR, Haake SM, Hacker KE, Pruthi RS, Wallen EM, Nielsen ME, Rathmell WK. Meta-analysis of clear cell renal cell carcinoma gene expression defines a variant subgroup and identifies gender influences on tumor biology. Eur Urol 2011, 61:258-268.
22. Dondeti VR, Wubbenhorst B, Lal P, Gordan JD, D'Andrea K, Attiyeh EF, Simon MC, Nathanson KL. Integrative genomic analyses of sporadic clear cell renal cell carcinoma define disease subtypes and potential new therapeutic targets. Cancer Res 2012, 72:112-121. 10.1158/0008-5472.CAN-11-1698, 3251639, 22094876.
23. Valera VA, Merino MJ. Misdiagnosis of clear cell renal cell carcinoma. Nat Rev Urol 2011, 8:321-333. 10.1038/nrurol.2011.64, 21587224.
24. Reuter VE, Tickoo SK. Differential diagnosis of renal tumours with clear cell histology. Pathology 2010, 42:374-383. 10.3109/00313021003785746, 20438412.
25. Sanford T, Chung PH, Reinish A, Valera V, Srinivasan R, Linehan WM, Bratslavsky G. Molecular sub-classification of renal epithelial tumors using meta-analysis of gene expression microarrays. PLoS One 2011, 6:e21260. 10.1371/journal.pone.0021260, 3144884, 21818257.
26. Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V, Jacobs KB, Chow WH, Zaridze D, Matveev V, Lubinski J, Trubicka J, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Foretova L, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet 2011, 43:60-65. 10.1038/ng.723, 3049257, 21131975.
27. Wu X, Scelo G, Purdue MP, Rothman N, Johansson M, Ye Y, Wang Z, Zelenika D, Moore LE, Wood CG, Prokhortchouk E, Gaborieau V, Jacobs KB, Chow WH, Toro JR, Zaridze D, Lin J, Lubinski J, Trubicka J, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Jinga V, Bencko V, Slamova A, Holcatova I, Navratilova M, Janout V, et al. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Hum Mol Genet 2012, 21:456-462. 10.1093/hmg/ddr479, 22010048.
28. Xu CF, Bing NX, Ball HA, Rajagopalan D, Sternberg CN, Hutson TE, de Souza P, Xue ZG, McCann L, King KS, Ragone LJ, Whittaker JC, Spraggs CF, Cardon LR, Mooser VE, Pandite LN. Pazopanib efficacy in renal cell carcinoma: evidence for predictive genetic markers in angiogenesis-related and exposure-related genes. J Clin Oncol 2011, 29:2557-2564. 10.1200/JCO.2010.32.9110, 21576632.
29. Huang D, Ding Y, Zhou M, Rini BI, Petillo D, Qian CN, Kahnoski R, Futreal PA, Furge KA, Teh BT. Interleukin-8 mediates resistance to antiangiogenic agent sunitinib in renal cell carcinoma. Cancer Res 2010, 70:1063-1071. 10.1158/0008-5472.CAN-09-3965, 20103651.
30. Garcia-Donas J, Esteban E, Leandro-Garcia LJ, Castellano DE, del Alba AG, Climent MA, Arranz JA, Gallardo E, Puente J, Bellmunt J, Mellado B, Martínez E, Moreno F, Font A, Robledo M, Rodríguez-Antona C. Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. Lancet Oncol 2011, 12:1143-1150. 10.1016/S1470-2045(11)70266-2, 22015057.
31. van der Veldt AA, Eechoute K, Gelderblom H, Gietema J, Guchelaar HJ, van Erp NP, van den Eertwegh AJ, Haanen JB, Mathijssen RH, Wessels JA. Genetic polymorphisms associated with a prolonged progression-free survival in patients with metastatic renal cell cancer treated with sunitinib. Clin Cancer Res 2011, 17:620-629. 10.1158/1078-0432.CCR-10-1828, 21097692.
32. Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet 2002, 3:415-428.
33. Dulaimi E, Ibanez de Caceres I, Uzzo RG, Al-Saleem T, Greenberg RE, Polascik TJ, Babb JS, Grizzle WE, Cairns P. Promoter hypermethylation profile of kidney cancer. Clin Cancer Res 2004, 10:3972-3979. 10.1158/1078-0432.CCR-04-0175, 15217927.
34. Ricketts CJ, Morris MR, Gentle D, Brown M, Wake N, Woodward ER, Clarke N, Latif F, Maher ER. Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma. Epigenetics 2012, 7:278-290. 10.4161/epi.7.3.19103, 22430804.
35. Morris MR, Ricketts CJ, Gentle D, McRonald F, Carli N, Khalili H, Brown M, Kishida T, Yao M, Banks RE, Clarke N, Latif F, Maher ER. Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene 2011, 30:1390-1401. 10.1038/onc.2010.525, 21132003.
36. Dahl E, Wiesmann F, Woenckhaus M, Stoehr R, Wild PJ, Veeck J, Knuchel R, Klopocki E, Sauter G, Simon R, Wieland WF, Walter B, Denzinger S, Hartmann A, Hammerschmied CG. Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma. Oncogene 2007, 26:5680-5691. 10.1038/sj.onc.1210345, 17353908.
37. Morris MR, Ricketts C, Gentle D, Abdulrahman M, Clarke N, Brown M, Kishida T, Yao M, Latif F, Maher ER. Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma. Oncogene 2010, 29:2104-2117. 10.1038/onc.2009.493, 3021900, 20154727.
38. Hoffman AM, Cairns P. Epigenetics of kidney cancer and bladder cancer. Epigenomics 2011, 3:19-34. 10.2217/epi.10.64, 3314381, 22126150.
39. van Vlodrop IJ, Baldewijns MM, Smits KM, Schouten LJ, van Neste L, van Criekinge W, van Poppel H, Lerut E, Schuebel KE, Ahuja N, Herman JG, de Bruïne AP, van Engeland M. Prognostic significance of Gremlin1 (GREM1) promoter CpG island hypermethylation in clear cell renal cell carcinoma. Am J Pathol 2010, 176:575-584. 10.2353/ajpath.2010.090442, 2808066, 20042676.
40. Peters I, Eggers H, Atschekzei F, Hennenlotter J, Waalkes S, Tränkenschuh W, Großhennig A, Merseburger AS, Stenzl A, Kuczyk MA, Serth J. GATA5 CpG island methylation in renal cell cancer: a potential biomarker for metastasis and disease progression. BJU Int 2012, 110(2 Pt B):E144-E152.
41. Reinert T, Modin C, Castano FM, Lamy P, Wojdacz TK, Hansen LL, Wiuf C, Borre M, Dyrskjot L, Orntoft TF. Comprehensive genome methylation analysis in bladder cancer: identification and validation of novel methylated genes and application of these as urinary tumor markers. Clin Cancer Res 2011, 17:5582-5592. 10.1158/1078-0432.CCR-10-2659, 21788354.
42. Kandimalla R, van Tilborg AA, Kompier LC, Stumpel DJ, Stam RW, Bangma CH, Zwarthoff EC. Genome-wide analysis of CpG island methylation in bladder cancer identified TBX2, TBX3, GATA2, and ZIC4 as pTa-specific prognostic markers. Eur Urol 2012, 61:1245-1256. 10.1016/j.eururo.2012.01.011, 22284968.
43. Costa VL, Henrique R, Danielsen SA, Eknaes M, Patricio P, Morais A, Oliveira J, Lothe RA, Teixeira MR, Lind GE, Jerónimo C. TCF21 and PCDH17 methylation: An innovative panel of biomarkers for a simultaneous detection of urological cancers. Epigenetics 2011, 6(9):1120-1130. 10.4161/epi.6.9.16376, 21847011.
44. Redova M, Svoboda M, Slaby O. MicroRNAs and their target gene networks in renal cell carcinoma. Biochem Biophys Res Commun 2011, 405:153-156. 10.1016/j.bbrc.2011.01.019, 21232526.
45. Catto JW, Alcaraz A, Bjartell AS, De Vere White R, Evans CP, Fussel S, Hamdy FC, Kallioniemi O, Mengual L, Schlomm T, Visakorpi T. MicroRNA in prostate, bladder, and kidney cancer: a systematic review. Eur Urol 2011, 59:671-681. 10.1016/j.eururo.2011.01.044, 21296484.
46. Valera VA, Walter BA, Linehan WM, Merino MJ. Regulatory effects of microRNA-92 (miR-92) on VHL gene expression and the hypoxic activation of miR-210 in clear cell renal cell carcinoma. J Cancer 2011, 2:515-526. 3204400, 22043236.
47. Chen Z, Li Y, Zhang H, Huang P, Luthra R. Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression. Oncogene 2010, 29:4362-4368. 10.1038/onc.2010.193, 20498629.
48. Juan D, Alexe G, Antes T, Liu H, Madabhushi A, Delisi C, Ganesan S, Bhanot G, Liou LS. Identification of a microRNA panel for clear-cell kidney cancer. Urology 2010, 75:835-841. 10.1016/j.urology.2009.10.033, 20035975.
49. Neal CS, Michael MZ, Rawlings LH, Van der Hoek MB, Gleadle JM. The VHL-dependent regulation of microRNAs in renal cancer. BMC Med 2010, 8:64. 10.1186/1741-7015-8-64, 2978113, 20964835.
50. Youssef YM, White NM, Grigull J, Krizova A, Samy C, Mejia-Guerrero S, Evans A, Yousef GM. Accurate molecular classification of kidney cancer subtypes using microRNA signature. Eur Urol 2011, 59:721-730. 10.1016/j.eururo.2011.01.004, 21272993.
51. Wulfken LM, Moritz R, Ohlmann C, Holdenrieder S, Jung V, Becker F, Herrmann E, Walgenbach-Brunagel G, von Ruecker A, Müller SC, Ellinger J. MicroRNAs in renal cell carcinoma: diagnostic implications of serum miR-1233 levels. PLoS One 2011, 6:e25787. 10.1371/journal.pone.0025787, 3184173, 21984948.
52. Redova M, Poprach A, Nekvindova J, Iliev R, Radova L, Lakomy R, Svoboda M, Vyzula R, Slaby O. Circulating miR-378 and miR-451 in serum are potential biomarkers for renal cell carcinoma. J Transl Med 2012, 10:55. 10.1186/1479-5876-10-55, 3340316, 22440013.
53. CAGEKID., http://www.cng.fr/cagekid/index.html
54. Biomarker pipeline., http://www.biomarkerpipeline.org/nihr/
55. EuroTARGET., http://www.eurotargetproject.eu/
56. PREDICT consortium., http://www.predictconsortium.eu/
57. TCGA., http://cancergenome.nih.gov/
58. Poste G. Bring on the biomarkers. Nature 2011, 469:156-157. 10.1038/469156a, 21228852.
59. Hoffmann NE, Sheinin Y, Lohse CM, Parker AS, Leibovich BC, Jiang Z, Kwon ED. External validation of IMP3 expression as an independent prognostic marker for metastatic progression and death for patients with clear cell renal cell carcinoma. Cancer 2008, 112:1471-1479. 10.1002/cncr.23296, 2792740, 18260086.
60. Thompson RH, Kuntz SM, Leibovich BC, Dong H, Lohse CM, Webster WS, Sengupta S, Frank I, Parker AS, Zincke H, Blute ML, Sebo TJ, Cheville JC, Kwon ED. Tumor B7-H1 is associated with poor prognosis in renal cell carcinoma patients with long-term follow-up. Cancer Res 2006, 66:3381-3385. 10.1158/0008-5472.CAN-05-4303, 16585157.
61. Saito K, Kihara K. Role of C-reactive protein as a biomarker for renal cell carcinoma. Expert Rev Anticancer Ther 2011, 10:1979-1989.
62. Lotan Y. The challenges of harnessing new technology. Eur Urol 2012, 61:269-270. 10.1016/j.eururo.2011.11.003, 22093296.
63. Cancer Research UK: Stratified medicine programme., http://science.cancerresearchuk.org/research/how-we-deliver-our-research/others/by-programme/stratified-medicine-programme/
64. Marusyk A, Almendro V, Polyak K. Intra-tumour heterogeneity: a looking glass for cancer?. Nat Rev Cancer 2012, 12:323-334. 10.1038/nrc3261, 22513401.
65. Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endesfelder D, Gronroos E, Martinez P, Matthews N, Stewart A, Tarpey P, Varela I, Phillimore B, Begum S, McDonald NQ, Butler A, Jones D, Raine K, Latimer C, Santos CR, Nohadani M, Eklund AC, Spencer-Dene B, Clark G, Pickering L, Stamp G, Gore M, Szallasi Z, Downward J, Futreal PA, Swanton C. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 2012, 366:883-892. 10.1056/NEJMoa1113205, 22397650.
66. Rini BI, Campbell SC, Escudier B. Renal cell carcinoma. Lancet 2009, 373:1119-1132. 10.1016/S0140-6736(09)60229-4, 19269025.