Genomic Predictors of Outcome in Prostate Cancer

European Urology - Tập 68 - Trang 1033-1044 - 2015
Peter J. Boström1, Anders S. Bjartell2, James W.F. Catto3, Scott E. Eggener4, Hans Lilja5,6,7, Stacy Loeb8, Jack Schalken9, Thorsten Schlomm10, Matthew R. Cooperberg11
1Department of Urology, Turku University Hospital, Turku, Finland
2Department of Urology, Skåne University Hospital Malmö, Lund University, Lund Sweden
3Academic Urology Unit, University of Sheffield, Sheffield, UK
4Section of Urology, University of Chicago, Chicago, IL, USA
5Departments of Laboratory Medicine, Surgery (Urology), and Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
6Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK
7Institute of Biomedical Technology, University of Tampere, Tampere, Finland
8Department of Urology and Population Health, New York University and Manhattan Veterans Affairs Medical Center, New York, NY, USA
9Department of Urology, Radboud University Medical Center, Nijmegen, The Netherlands
10Martini-Clinic, Prostate Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
11Departments of Urology and Epidemiology and Biostatistics, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA

Tài liệu tham khảo

Torre, 2015, Global cancer statistics, 2012, CA Cancer J Clin, 65, 87, 10.3322/caac.21262 Sanda, 2008, Quality of life and satisfaction with outcome among prostate-cancer survivors, N Engl J Med, 358, 1250, 10.1056/NEJMoa074311 Schlomm, 2007, Molecular staging of prostate cancer in the year 2007, World J Urol, 25, 19, 10.1007/s00345-007-0153-z Barbieri, 2013, The mutational landscape of prostate cancer, Eur Urol, 64, 567, 10.1016/j.eururo.2013.05.029 Choudhury, 2012, The role of genetic markers in the management of prostate cancer, Eur Urol, 62, 577, 10.1016/j.eururo.2012.05.054 Jerónimo, 2011, Epigenetics in prostate cancer: biologic and clinical relevance, Eur Urol, 60, 753, 10.1016/j.eururo.2011.06.035 Catto, 2011, MicroRNA in prostate, bladder, and kidney cancer: a systematic review, Eur Urol, 59, 671, 10.1016/j.eururo.2011.01.044 Schoenborn, 2013, Genomic profiling defines subtypes of prostate cancer with the potential for therapeutic stratification, Clin Cancer Res, 19, 4058, 10.1158/1078-0432.CCR-12-3606 Easwaran, 2014, Cancer epigenetics: tumor heterogeneity, plasticity of stem-like states, and drug resistance, Mol Cell, 54, 716, 10.1016/j.molcel.2014.05.015 Chao, 2013, Methylation markers for prostate cancer prognosis: a systematic review, Cancer Causes Control, 24, 1615, 10.1007/s10552-013-0249-2 Moher, 2009, Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement, J Clin Epidemiol, 62, 1006, 10.1016/j.jclinepi.2009.06.005 Tomlins, 2005, Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer, Science, 310, 644, 10.1126/science.1117679 Tomlins, 2009, ETS gene fusions in prostate cancer: from discovery to daily clinical practice, Eur Urol, 56, 275, 10.1016/j.eururo.2009.04.036 King, 2009, Cooperativity of TMPRSS2-ERG with PI3-kinase pathway activation in prostate oncogenesis, Nat Genet, 41, 524, 10.1038/ng.371 Krohn, 2013, Recurrent deletion of 3p13 targets multiple tumour suppressor genes and defines a distinct subgroup of aggressive ERG fusion-positive prostate cancers, J Pathol, 231, 130, 10.1002/path.4223 Demichelis, 2009, Distinct genomic aberrations associated with ERG rearranged prostate cancer, Genes Chromosomes Cancer, 48, 366, 10.1002/gcc.20647 Burkhardt, 2013, CHD1 is a 5q21 tumor suppressor required for ERG rearrangement in prostate cancer, Cancer Res, 73, 2795, 10.1158/0008-5472.CAN-12-1342 Weischenfeldt, 2013, Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer, Cancer Cell, 23, 159, 10.1016/j.ccr.2013.01.002 Steurer, 2014, TMPRSS2-ERG fusions are strongly linked to young patient age in low-grade prostate cancer, Eur Urol, 66, 978, 10.1016/j.eururo.2014.06.027 FitzGerald, 2008, Association of TMPRSS2-ERG gene fusion with clinical characteristics and outcomes: results from a population-based study of prostate cancer, BMC Cancer, 8, 230, 10.1186/1471-2407-8-230 Gopalan, 2009, TMPRSS2-ERG gene fusion is not associated with outcome in patients treated by prostatectomy, Cancer Res, 69, 1400, 10.1158/0008-5472.CAN-08-2467 Hoogland, 2012, ERG immunohistochemistry is not predictive for PSA recurrence, local recurrence or overall survival after radical prostatectomy for prostate cancer, Mod Pathol, 25, 471, 10.1038/modpathol.2011.176 Nam, 2007, Expression of the TMPRSS2:ERG fusion gene predicts cancer recurrence after surgery for localised prostate cancer, Br J Cancer, 97, 1690, 10.1038/sj.bjc.6604054 Pettersson, 2012, The TMPRSS2:ERG rearrangement, ERG expression, and prostate cancer outcomes: a cohort study and meta-analysis, Cancer Epidemiol Biomarkers Prev, 21, 1497, 10.1158/1055-9965.EPI-12-0042 Saramäki, 2008, TMPRSS2:ERG fusion identifies a subgroup of prostate cancers with a favorable prognosis, Clin Cancer Res, 14, 3395, 10.1158/1078-0432.CCR-07-2051 Boormans, 2011, Confirmation of the association of TMPRSS2(exon 0):ERG expression and a favorable prognosis of primary prostate cancer, Eur Urol, 60, 183, 10.1016/j.eururo.2011.03.028 Minner, 2011, ERG status is unrelated to PSA recurrence in radically operated prostate cancer in the absence of antihormonal therapy, Clin Cancer Res, 17, 5878, 10.1158/1078-0432.CCR-11-1251 Nam, 2007, Expression of TMPRSS2:ERG gene fusion in prostate cancer cells is an important prognostic factor for cancer progression, Cancer Biol Ther, 6, 40, 10.4161/cbt.6.1.3489 Dal Pra, 2013, TMPRSS2-ERG status is not prognostic following prostate cancer radiotherapy: implications for fusion status and DSB repair, Clin Cancer Res, 19, 5202, 10.1158/1078-0432.CCR-13-1049 Attard, 2008, Duplication of the fusion of TMPRSS2 to ERG sequences identifies fatal human prostate cancer, Oncogene, 27, 253, 10.1038/sj.onc.1210640 Demichelis, 2007, TMPRSS2:ERG gene fusion associated with lethal prostate cancer in a watchful waiting cohort, Oncogene, 26, 4596, 10.1038/sj.onc.1210237 Hägglöf, 2014, TMPRSS2-ERG expression predicts prostate cancer survival and associates with stromal biomarkers, PLoS One, 9, e86824, 10.1371/journal.pone.0086824 Qi, 2014, ERG rearrangement is associated with prostate cancer-related death in Chinese prostate cancer patients, PLoS One, 9, e84959, 10.1371/journal.pone.0084959 Bismar, 2012, ERG protein expression reflects hormonal treatment response and is associated with Gleason score and prostate cancer specific mortality, Eur J Cancer, 48, 538, 10.1016/j.ejca.2012.01.001 Boormans, 2010, Expression of the androgen-regulated fusion gene TMPRSS2-ERG does not predict response to endocrine treatment in hormone-naïve, node-positive prostate cancer, Eur Urol, 57, 830, 10.1016/j.eururo.2009.08.013 Leinonen, 2010, Association of SPINK1 expression and TMPRSS2:ERG fusion with prognosis in endocrine-treated prostate cancer, Clin Cancer Res, 16, 2845, 10.1158/1078-0432.CCR-09-2505 Berg, 2014, ERG protein expression in diagnostic specimens is associated with increased risk of progression during active surveillance for prostate cancer, Eur Urol, 66, 851, 10.1016/j.eururo.2014.02.058 Lin, 2013, Urinary TMPRSS2:ERG and PCA3 in an active surveillance cohort: results from a baseline analysis in the Canary Prostate Active Surveillance Study, Clin Cancer Res, 19, 2442, 10.1158/1078-0432.CCR-12-3283 Barwick, 2010, Prostate cancer genes associated with TMPRSS2-ERG gene fusion and prognostic of biochemical recurrence in multiple cohorts, Br J Cancer, 102, 570, 10.1038/sj.bjc.6605519 Brase, 2011, TMPRSS2-ERG-specific transcriptional modulation is associated with prostate cancer biomarkers and TGF-β signaling, BMC Cancer, 11, 507, 10.1186/1471-2407-11-507 Karnes, 2010, The ability of biomarkers to predict systemic progression in men with high-risk prostate cancer treated surgically is dependent on ERG status, Cancer Res, 70, 8994, 10.1158/0008-5472.CAN-10-1358 Gasi Tandefelt, 2013, A 36-gene signature predicts clinical progression in a subgroup of ERG-positive prostate cancers, Eur Urol, 64, 941, 10.1016/j.eururo.2013.02.039 Cairns, 1997, Frequent inactivation of PTEN/MMAC1 in primary prostate cancer, Cancer Res, 57, 4997 Saal, 2007, Poor prognosis in carcinoma is associated with a gene expression signature of aberrant PTEN tumor suppressor pathway activity, Proc Natl Acad Sci U S A, 104, 7564, 10.1073/pnas.0702507104 Leinonen, 2013, Loss of PTEN is associated with aggressive behavior in ERG-positive prostate cancer, Cancer Epidemiol Biomarkers Prev, 22, 2333, 10.1158/1055-9965.EPI-13-0333-T Yoshimoto, 2008, Absence of TMPRSS2:ERG fusions and PTEN losses in prostate cancer is associated with a favorable outcome, Mod Pathol, 21, 1451, 10.1038/modpathol.2008.96 Krohn, 2012, Genomic deletion of PTEN is associated with tumor progression and early PSA recurrence in ERG fusion-positive and fusion-negative prostate cancer, Am J Pathol, 181, 401, 10.1016/j.ajpath.2012.04.026 Reid, 2010, Molecular characterisation of ERG, ETV1 and PTEN gene loci identifies patients at low and high risk of death from prostate cancer, Br J Cancer, 102, 678, 10.1038/sj.bjc.6605554 McCall, 2008, Is PTEN loss associated with clinical outcome measures in human prostate cancer?, Br J Cancer, 99, 1296, 10.1038/sj.bjc.6604680 Ferraldeschi, 2015, PTEN protein loss and clinical outcome from castration-resistant prostate cancer treated with abiraterone acetate, Eur Urol, 67, 795, 10.1016/j.eururo.2014.10.027 Cuzick, 2011, Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study, Lancet Oncol, 12, 245, 10.1016/S1470-2045(10)70295-3 Wu, 2013, Development and validation of a 32-gene prognostic index for prostate cancer progression, Proc Natl Acad Sci U S A, 110, 6121, 10.1073/pnas.1215870110 Erho, 2013, Discovery and validation of a prostate cancer genomic classifier that predicts early metastasis following radical prostatectomy, PLoS One, 8, e66855, 10.1371/journal.pone.0066855 Klein, 2014, A 17-gene assay to predict prostate cancer aggressiveness in the context of Gleason grade heterogeneity, tumor multifocality, and biopsy undersampling, Eur Urol, 66, 550, 10.1016/j.eururo.2014.05.004 Pepe, 2008, Pivotal evaluation of the accuracy of a biomarker used for classification or prediction: standards for study design, J Natl Cancer Inst, 100, 1432, 10.1093/jnci/djn326 McShane, 2012, Publication of tumor marker research results: the necessity for complete and transparent reporting, J Clin Oncol, 30, 4223, 10.1200/JCO.2012.42.6858 Talantov, 2010, Gene based prediction of clinically localized prostate cancer progression after radical prostatectomy, J Urol, 184, 1521, 10.1016/j.juro.2010.05.084 Chen, 2012, An accurate prostate cancer prognosticator using a seven-gene signature plus Gleason score and taking cell type heterogeneity into account, PLoS One, 7, e45178, 10.1371/journal.pone.0045178 Nakagawa, 2008, A tissue biomarker panel predicting systemic progression after PSA recurrence post-definitive prostate cancer therapy, PLoS One, 3, e2318, 10.1371/journal.pone.0002318 Cheville, 2008, Gene panel model predictive of outcome in men at high-risk of systemic progression and death from prostate cancer after radical retropubic prostatectomy, J Clin Oncol, 26, 3930, 10.1200/JCO.2007.15.6752 Cooperberg, 2015, Combined value of validated clinical and genomic risk stratification tools for predicting prostate cancer mortality in a high-risk prostatectomy cohort, Eur Urol, 67, 326, 10.1016/j.eururo.2014.05.039 Irshad, 2013, A molecular signature predictive of indolent prostate cancer, Sci Transl Med, 5, 202ra122, 10.1126/scitranslmed.3006408 Sboner, 2010, Molecular sampling of prostate cancer: a dilemma for predicting disease progression, BMC Med Genomics, 3, 8, 10.1186/1755-8794-3-8 Penney, 2011, mRNA expression signature of Gleason grade predicts lethal prostate cancer, J Clin Oncol, 29, 2391, 10.1200/JCO.2010.32.6421 Cooperberg, 2013, Validation of a cell-cycle progression gene panel to improve risk stratification in a contemporary prostatectomy cohort, J Clin Oncol, 31, 1428, 10.1200/JCO.2012.46.4396 Cuzick, 2012, Prognostic value of a cell cycle progression signature for prostate cancer death in a conservatively managed needle biopsy cohort, Br J Cancer, 106, 1095, 10.1038/bjc.2012.39 Bishoff, 2014, Prognostic utility of the cell cycle progression score generated from biopsy in men treated with prostatectomy, J Urol, 192, 409, 10.1016/j.juro.2014.02.003 Cooperberg, 2011, The CAPRA-S score: a straightforward tool for improved prediction of outcomes after radical prostatectomy, Cancer, 117, 5039, 10.1002/cncr.26169 Freedland, 2013, Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy, Int J Radiat Oncol Biol Phys, 86, 848, 10.1016/j.ijrobp.2013.04.043 Crawford, 2014, Cell cycle progression score and treatment decisions in prostate cancer: results from an ongoing registry, Curr Med Res Opin, 30, 1025, 10.1185/03007995.2014.899208 Ross, 2014, A genomic classifier predicting metastatic disease progression in men with biochemical recurrence after prostatectomy, Prostate Cancer Prostatic Dis, 17, 64, 10.1038/pcan.2013.49 Karnes, 2013, Validation of a genomic classifier that predicts metastasis following radical prostatectomy in an at risk patient population, J Urol, 190, 2047, 10.1016/j.juro.2013.06.017 Den, 2014, Genomic prostate cancer classifier predicts biochemical failure and metastases in patients after postoperative radiation therapy, Int J Radiat Oncol Biol Phys, 89, 1038, 10.1016/j.ijrobp.2014.04.052 Stephenson, 2005, Postoperative nomogram predicting the 10-year probability of prostate cancer recurrence after radical prostatectomy, J Clin Oncol, 23, 7005, 10.1200/JCO.2005.01.867 Badani, 2013, Impact of a genomic classifier of metastatic risk on postoperative treatment recommendations for prostate cancer patients: a report from the DECIDE study group, Oncotarget, 4, 600, 10.18632/oncotarget.918 Cullen, 2015, A biopsy-based 17-gene Genomic Prostate Score predicts recurrence after radical prostatectomy and adverse surgical pathology in a racially diverse population of men with clinically low- and intermediate-risk prostate cancer, Eur Urol, 68, 123, 10.1016/j.eururo.2014.11.030 Gu, 2015, BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence, Nat Genet, 47, 22, 10.1038/ng.3165 Stewart, 2013, Clinical utility of an epigenetic assay to detect occult prostate cancer in histopathologically negative biopsies: results of the MATLOC study, J Urol, 189, 1110, 10.1016/j.juro.2012.08.219 Partin, 2014, Clinical validation of an epigenetic assay to predict negative histopathological results in repeat prostate biopsies, J Urol, 192, 1081, 10.1016/j.juro.2014.04.013 Wojno, 2014, Reduced rate of repeated prostate biopsies observed in ConfirmMDx clinical utility field study, Am Health Drug Benefits, 7, 129 Taylor, 2010, Integrative genomic profiling of human prostate cancer, Cancer Cell, 18, 11, 10.1016/j.ccr.2010.05.026 Tsuchiya, 2002, Clinical significance of alterations of chromosome 8 detected by fluorescence in situ hybridization analysis in pathologic organ-confined prostate cancer, Genes Chromosomes Cancer, 34, 363, 10.1002/gcc.10064 Liu, 2013, Genetic markers associated with early cancer-specific mortality following prostatectomy, Cancer, 119, 2405, 10.1002/cncr.27954 Zafarana, 2012, Copy number alterations of c-MYC and PTEN are prognostic factors for relapse after prostate cancer radiotherapy, Cancer, 118, 4053, 10.1002/cncr.26729 Hieronymus, 2014, Copy number alteration burden predicts prostate cancer relapse, Proc Natl Acad Sci U S A, 111, 11139, 10.1073/pnas.1411446111 Paris, 2004, Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors, Hum Mol Genet, 13, 1303, 10.1093/hmg/ddh155 Paris, 2010, A group of genome-based biomarkers that add to a Kattan nomogram for predicting progression in men with high-risk prostate cancer, Clin Cancer Res, 16, 195, 10.1158/1078-0432.CCR-09-0948 Bastian, 2007, Prognostic value of preoperative serum cell-free circulating DNA in men with prostate cancer undergoing radical prostatectomy, Clin Cancer Res, 13, 5361, 10.1158/1078-0432.CCR-06-2781 Ross, 2012, A whole-blood RNA transcript-based prognostic model in men with castration-resistant prostate cancer: a prospective study, Lancet Oncol, 13, 1105, 10.1016/S1470-2045(12)70263-2 Olmos, 2012, Prognostic value of blood mRNA expression signatures in castration-resistant prostate cancer: a prospective, two-stage study, Lancet Oncol, 13, 1114, 10.1016/S1470-2045(12)70372-8 Brase, 2011, Circulating miRNAs are correlated with tumor progression in prostate cancer, Int J Cancer, 128, 608, 10.1002/ijc.25376 Danila, 2014, Analytic and clinical validation of a prostate cancer-enhanced messenger RNA detection assay in whole blood as a prognostic biomarker for survival, Eur Urol, 65, 1191, 10.1016/j.eururo.2013.07.006 Dijkstra, 2014, KLK3, PCA3, and TMPRSS2-ERG expression in the peripheral blood mononuclear cell fraction from castration-resistant prostate cancer patients and response to docetaxel treatment, Prostate, 74, 1222, 10.1002/pros.22839 Antonarakis, 2014, AR-V7 and resistance to enzalutamide and abiraterone in prostate cancer, N Engl J Med, 371, 1028, 10.1056/NEJMoa1315815 Danila, 2011, Circulating tumor cells as biomarkers in prostate cancer, Clin Cancer Res, 17, 3903, 10.1158/1078-0432.CCR-10-2650 Brocks, 2014, Intratumor DNA methylation heterogeneity reflects clonal evolution in aggressive prostate cancer, Cell Rep, 8, 798, 10.1016/j.celrep.2014.06.053 Minner, 2013, Marked heterogeneity of ERG expression in large primary prostate cancers, Mod Pathol, 26, 106, 10.1038/modpathol.2012.130 Gerlinger, 2015, Intratumour heterogeneity in urologic cancers: from molecular evidence to clinical implications, Eur Urol, 67, 729, 10.1016/j.eururo.2014.04.014 Väänänen, 2014, Cancer-associated changes in the expression of TMPRSS2-ERG, PCA3, and SPINK1 in histologically benign tissue from cancerous vs noncancerous prostatectomy specimens, Urology, 83, 10.1016/j.urology.2013.11.005 McKenney, 2011, The potential impact of reproducibility of Gleason grading in men with early stage prostate cancer managed by active surveillance: a multi-institutional study, J Urol, 186, 465, 10.1016/j.juro.2011.03.115