Systematic evaluation of the prognostic impact and intratumour heterogeneity of clear cell renal cell carcinoma biomarkers

European Urology

Volumn 66, Issue 5, 2014, Pages 936-948

  Gulati, Sakshi ^a   Martinez, Pierre ^a   Joshi, Tejal ^b   Birkbak, Nicolai Juul ^b   Santos, Claudio R ^a   Rowan, Andrew J ^a   Pickering, Lisa ^c   Gore, Martin ^c   Larkin, James ^c   Szallasi, Zoltan ^b,d   Bates, Paul A ^a   Swanton, Charles ^a,e   Gerlinger, Marco ^a,f  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

^c ROYAL MARSDEN HOSPITAL   (United Kingdom)

^d HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Biomarker; Intratumour heterogeneity; Kidney cancer; Personalised medicine; Prognostic marker

Indexed keywords

BIOLOGICAL MARKER; PROTEIN P53; TRANSCRIPTOME; TUMOR MARKER;

ADULT; AGED; ARTICLE; CANCER PROGNOSIS; CANCER SPECIFIC SURVIVAL; CANCER STAGING; CANCER SURVIVAL; CHROMOSOMAL INSTABILITY; CHROMOSOME 12; CHROMOSOME 20Q; CHROMOSOME 22Q; CHROMOSOME 4P; CHROMOSOME 8Q; CHROMOSOME 9P; CHROMOSOME DELETION; COHORT ANALYSIS; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; INTRATUMOUR HETEROGENEITY; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TUMOR BIOPSY; BIOPSY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; KAPLAN MEIER METHOD; KIDNEY TUMOR; MIDDLE AGED; MORTALITY; MULTIVARIATE ANALYSIS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; PROPORTIONAL HAZARDS MODEL; REPRODUCIBILITY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TIME; VALIDATION STUDY;

AGED; BIOMARKERS, TUMOR; BIOPSY; CARCINOMA, RENAL CELL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIER ESTIMATE; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; NEOPLASM STAGING; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; PROPORTIONAL HAZARDS MODELS; REPRODUCIBILITY OF RESULTS; RISK FACTORS; TIME FACTORS; TRANSCRIPTOME;

EID: 84946126618     PISSN: 03022838     EISSN: 18737560     Source Type: Journal    
DOI: 10.1016/j.eururo.2014.06.053     Document Type: Article

References (40)

1. R.J. Motzer, M. Mazumdar, J. Bacik, W. Berg, A. Amsterdam, J. Ferrara Survival and prognostic stratification of 670 patients with advanced renal cell carcinoma J Clin Oncol 17 1999 2530 2540
2. D.Y. Heng, W. Xie, M.M. Regan et al. Prognostic factors for overall survival in patients with metastatic renal cell carcinoma treated with vascular endothelial growth factor-targeted agents: results from a large, multicenter study J Clin Oncol 27 2009 5794 5799
3. P.A. Tang, M.M. Vickers, D.Y. Heng Clinical and molecular prognostic factors in renal cell carcinoma: what we know so far Hematol Oncol Clin North Am 25 2011 871 891
4. I. Frank, M.L. Blute, J.C. Cheville, C.M. Lohse, A.L. Weaver, H. Zincke An outcome prediction model for patients with clear cell renal cell carcinoma treated with radical nephrectomy based on tumor stage, size, grade and necrosis: the SSIGN score J Urol 168 2002 2395 2400
5. A. Zisman, A.J. Pantuck, F. Dorey et al. Improved prognostication of renal cell carcinoma using an integrated staging system J Clin Oncol 19 2001 1649 1657
6. M. Sorbellini, M.W. Kattan, M.E. Snyder et al. A postoperative prognostic nomogram predicting recurrence for patients with conventional clear cell renal cell carcinoma J Urol 173 2005 48 51
7. M. Gerlinger, A.J. Rowan, S. Horswell et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing N Engl J Med 366 2012 883 892
8. M. Gerlinger, S. Horswell, J. Larkin et al. Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing Nat Genet 46 2014 225 233
9. P. Martinez, N.J. Birkbak, M. Gerlinger et al. Parallel evolution of tumour subclones mimics diversity between tumours J Pathol 230 2013 356 364
10. A.R. Brannon, A. Reddy, M. Seiler et al. Molecular stratification of clear cell renal cell carcinoma by consensus clustering reveals distinct subtypes and survival patterns Genes Cancer 1 2010 152 163
11. Cancer Genome Atlas Research, Network. Comprehensive molecular characterization of clear cell renal cell, carcinoma Nature 499 2013 43 49
12. J.H. Kim, C.W. Jung, Y.H. Cho et al. Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma Oncol Rep 13 2005 859 864
13. P. Schraml, K. Struckmann, F. Hatz et al. VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma J Pathol 196 2002 186 193
14. M. Yao, M. Yoshida, T. Kishida et al. VHL tumor suppressor gene alterations associated with good prognosis in sporadic clear-cell renal carcinoma J Natl Cancer Inst 94 2002 1569 1575
15. P. Kapur, S. Pena-Llopis, A. Christie et al. Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation Lancet Oncol 14 2013 159 167
16. A.A. Hakimi, I. Ostrovnaya, B. Reva et al. Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network Clin Cancer Res 19 2013 3259 3267
17. Y. Sato, T. Yoshizato, Y. Shiraishi et al. Integrated molecular analysis of clear-cell renal cell carcinoma Nat Genet 45 2013 860 867
18. C. Kandoth, M.D. McLellan, F. Vandin et al. Mutational landscape and significance across 12 major cancer types Nature 502 2013 333 339
19. B. Gunawan, W. Huber, M. Holtrup et al. Prognostic impacts of cytogenetic findings in clear cell renal cell carcinoma: gain of 5q31-qter predicts a distinct clinical phenotype with favorable prognosis Cancer Res 61 2001 7731 7738
20. J. Sanjmyatav, K. Junker, S. Matthes et al. Identification of genomic alterations associated with metastasis and cancer specific survival in clear cell renal cell carcinoma J Urol 186 2011 2078 2083
21. T. Klatte, N. Kroeger, E.N. Rampersaud et al. Gain of chromosome 8q is associated with metastases and poor survival of patients with clear cell renal cell carcinoma Cancer 118 2012 5777 5782
22. F.A. Monzon, K. Alvarez, L. Peterson et al. Chromosome 14q loss defines a molecular subtype of clear-cell renal cell carcinoma associated with poor prognosis Mod Pathol 24 2011 1470 1479
23. T. Klatte, P.N. Rao, M. de Martino et al. Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma J Clin Oncol 27 2009 746 753
24. N. Kroeger, T. Klatte, K. Chamie et al. Deletions of chromosomes 3p and 14q molecularly subclassify clear cell renal cell carcinoma Cancer 119 2013 1547 1554
25. P. Elfving, N. Mandahl, R. Lundgren et al. Prognostic implications of cytogenetic findings in kidney cancer Br J Urol 80 1997 698 706
26. J. La Rochelle, T. Klatte, A. Dastane et al. Chromosome 9p deletions identify an aggressive phenotype of clear cell renal cell carcinoma Cancer 116 2010 4696 4702
27. H. Moch, J.C. Presti Jr., G. Sauter et al. Genetic aberrations detected by comparative genomic hybridization are associated with clinical outcome in renal cell carcinoma Cancer Res 56 1996 27 30
28. M. Brunelli, A. Eccher, S. Gobbo et al. Loss of chromosome 9p is an independent prognostic factor in patients with clear cell renal cell carcinoma Mod Pathol 21 2008 1 6
29. A. Antonelli, N. Arrighi, R. Tardanico et al. Prognostic value of cytogenetic analysis in clear cell renal carcinoma: a study on 131 patients with long-term follow-up Anticancer Res 30 2010 4705 4709
30. D. Wuttig, S. Zastrow, S. Fussel et al. CD31, EDNRB and TSPAN7 are promising prognostic markers in clear-cell renal cell carcinoma revealed by genome-wide expression analyses of primary tumors and metastases Int J Cancer 131 2012 E693 E704
31. F. Kosari, A.S. Parker, D.M. Kube et al. Clear cell renal cell carcinoma: gene expression analyses identify a potential signature for tumor aggressiveness Clin Cancer Res 11 2005 5128 5139
32. B.R. Lane, J. Li, M. Zhou et al. Differential expression in clear cell renal cell carcinoma identified by gene expression profiling J Urol 181 2009 849 860
33. H. Zhao, B. Ljungberg, K. Grankvist, T. Rasmuson, R. Tibshirani, J.D. Brooks Gene expression profiling predicts survival in conventional renal cell carcinoma PLoS Med 3 2006 e13
34. M. Beleut, P. Zimmermann, M. Baudis et al. Integrative genome-wide expression profiling identifies three distinct molecular subgroups of renal cell carcinoma with different patient outcome BMC Cancer 12 2012 310
35. A.K. Bostrom, D. Lindgren, M.E. Johansson, H. Axelson Effects of TGF-beta signaling in clear cell renal cell carcinoma cells Biochem Biophys Res Commun 435 2013 126 133
36. V. Ficarra, G. Martignoni, C. Lohse et al. External validation of the Mayo Clinic Stage, Size, Grade and Necrosis (SSIGN) score to predict cancer specific survival using a European series of conventional renal cell carcinoma J Urol 175 2006 1235 1239
37. R. Zigeuner, G. Hutterer, T. Chromecki et al. External validation of the Mayo Clinic stage, size, grade, and necrosis (SSIGN) score for clear-cell renal cell carcinoma in a single European centre applying routine pathology Eur Urol 57 2010 102 111
38. S.A. Brooks, A.R. Brannon, J.S. Parker et al. ClearCode34: A prognostic risk predictor for localized clear cell renal cell carcinoma Eur Urol 66 2014 77 84
39. N. McGranahan, R.A. Burrell, D. Endesfelder, M.R. Novelli, C. Swanton Cancer chromosomal instability: therapeutic and diagnostic challenges EMBO Rep 13 2012 528 538
40. A.J. Lee, D. Endesfelder, A.J. Rowan et al. Chromosomal instability confers intrinsic multidrug resistance Cancer Res 71 2011 1858 1870