Renal carcinoma pharmacogenomics and predictors of response: Steps toward treatment individualization

Urologic Oncology: Seminars and Original Investigations

Volumn 33, Issue 4, 2015, Pages 179-186

  Garcia Donas, Jesus ^a,b   Rodriguez Moreno, Juan Francisco ^a   Romero Laorden, Nuria ^a   Rodriguez Antona, Cristina ^b,c  

^a Gynecolog ical and Genitourinary Tumors Programme Centro Integra Oncologico Clara Campal CIOCC   (Spain)

^b Centro Nacional de Investigaciones Oncológicas   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Antiangiogenics; Clear cell renal carcinoma; Kidney cancer; mTOR inhibitors; Predictive biomarkers; Targeted therapies

Indexed keywords

ANGIOGENIC FACTOR; AXITINIB; BEVACIZUMAB; BIOLOGICAL MARKER; CARBONATE DEHYDRATASE IX; CYTOKINE; INTERFERON; INTERLEUKIN 2; LACTATE DEHYDROGENASE; MICRORNA; NIVOLUMAB; PAZOPANIB; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; SCATTER FACTOR RECEPTOR; SORAFENIB; SUNITINIB; TEMSIROLIMUS; TYROSINE KINASE RECEPTOR; VON HIPPEL LINDAU PROTEIN;

ALLELE; CANCER IMMUNOTHERAPY; CIRCULATING ENDOTHELIAL CELL; DNA METHYLATION; ENDOTHELIUM CELL; ENZYME ACTIVATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GERMLINE MUTATION; HUMAN; KIDNEY CARCINOMA; LACTATE DEHYDROGENASE BLOOD LEVEL; LOSS OF FUNCTION MUTATION; PERSONALIZED MEDICINE; PHARMACOGENOMICS; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; CARCINOMA, RENAL CELL; GENETICS; KIDNEY NEOPLASMS; MOLECULARLY TARGETED THERAPY; PHARMACOGENETICS; PROCEDURES; TRENDS;

CARCINOMA, RENAL CELL; HUMANS; KIDNEY NEOPLASMS; MOLECULAR TARGETED THERAPY; PHARMACOGENETICS;

EID: 84933278023     PISSN: 10781439     EISSN: 18732496     Source Type: Journal    
DOI: 10.1016/j.urolonc.2013.09.015     Document Type: Review

References (59)

1. Yang J.C., Sherry R.M., Steinberg S.M., et al. Randomized study of high-dose and low-dose interleukin-2 in patients with metastatic renal cancer. J Clin Oncol 2003, 21:3127-3132.
2. National Comprehensive Cancer Network. [accessed 01.08.13]. http://www.nccn.org.
3. Atkins M., Regan M., McDermott D., et al. Carbonic anhydrase IX expression predicts outcome of interleukin 2 therapy for renal cancer. Clin Cancer Res 2005, 11:3714-3721.
4. McDermott D.F., Ghebremichael M.S., Signorett S., et al. The high-dose aldesleukin (HD IL-2) SELECT trial in patients with metastatic renal cell carcinoma (mRCC). J Clin Oncol 2010, 28:15s. [suppl, abstr 4514].
5. Topalian S.L., Hodi F.S., Brahmer J.R., et al. Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. N Engl J Med 2012, 366:2443-2454.
6. Lipson E.J., Sharfman W.H., Drake C.G., et al. Durable cancer regression off-treatment and effective reinduction therapy with an anti-PD-1 antibody. Clin Cancer Res 2013, 19:462-468.
7. Gnarra J.R., Tory K., Weng Y., et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet 1994, 7:85-90.
8. Rini B.I., Jaeger E., Weinberg V., et al. Clinical response to therapy targeted at vascular endothelial growth factor in metastatic renal cell carcinoma: impact of patient characteristics and Von Hippel-Lindau gene status. BJU Int 2006, 98:756-762.
9. Choueiri T.K., Vaziri S.A., Jaeger E., et al. Von Hippel-Lindau gene status and response to vascular endothelial growth factor targeted therapy for metastatic clear cell renal cell carcinoma. J Urol 2008, 180:860-865. [discussion 5-6].
10. Garcia-Donas J., Leandro-García L.J., González Del Alba A., et al. Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma. Ann Oncol 2013, 24:2409-2414.
11. Nickerson M.L., Jaeger E., Shi Y., et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res 2008, 14:4726-4734.
12. van Erp N.P., Eechoute K., van der Veldt A.A., et al. Pharmacogenetic pathway analysis for determination of sunitinib-induced toxicity. J Clin Oncol 2009, 27:4406-4412.
13. van Erp N.P., Mathijssen R.H., van der Veldt A.A., et al. Myelosuppression by sunitinib is flt-3 genotype dependent. Br J Cancer 2010, 103:757-758.
14. Garcia-Donas J., Esteban E., Leandro-Garcia L.J., et al. 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.
15. Kim J.J., Vaziri S.A., Rini B.I., et al. Association of VEGF and VEGFR2 single nucleotide polymorphisms with hypertension and clinical outcome in metastatic clear cell renal cell carcinoma patients treated with sunitinib. Cancer 2012, 118:1946-1954.
16. van der Veldt A.A., Eechoute K., Gelderblom H., et al. 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.
17. Beuselinck B., Karadimou A., Lambrechts D., et al. Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib. Br J Cancer 2013, 108:887-900.
18. Beuselinck B, Karadimou A, Lambrechts D. et al. VEGFR1 single nucleotide polymorphisms associated with outcome in patients with metastatic renal cell carcinoma treated with sunitinib-a multicentric retrospective analysis. Acta Oncol. 2013. [Epub ahead of print].
19. Lambrechts D., Claes B., Delmar P., et al. VEGF pathway genetic variants as biomarkers of treatment outcome with bevacizumab: an analysis of data from the AViTA and AVOREN randomised trials. Lancet Oncol 2012, 13:724-733.
20. Scartozzi M., Bianconi M., Faloppi L., et al. VEGF and VEGFR polymorphisms affect clinical outcome in advanced renal cell carcinoma patients receiving first-line sunitini. Br J Cancer 2013, 108:1126-1132.
21. Xu C.F., Bing N.X., Ball H.A., et al. 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.
22. Shin S.J., Hwang J.W., Ahn J.B., Rha S.Y., Roh J.K., Chung H.C. Circulating vascular endothelial growth factor receptor 2/pAkt-positive cells as a functional pharmacodynamic marker in metastatic colorectal cancers treated with antiangiogenic agent. Invest New Drugs 2013, 31:1-13.
23. Manzoni M., Mariucci S., Delfanti S., et al. Circulating endothelial cells and their apoptotic fraction are mutually independent predictive biomarkers in Bevacizumab-based treatment for advanced colorectal cancer. J Cancer Res Clin Oncol 2012, 138:1187-1196.
24. Mateo J., Heymach J.V., Zurita A.J. Circulating biomarkers of response to sunitinib in gastroenteropancreatic neuroendocrine tumors: current data and clinical outlook. Mol Diagn Ther 2012, 16:151-161.
25. Vroling L., van der Veldt A.A., de Haas R.R., et al. Increased numbers of small circulating endothelial cells in renal cell cancer patients treated with sunitinib. Angiogenesis 2009, 12:69-79.
26. Gruenwald V., Beutel G., Schuch-Jantsch S., et al. Circulating endothelial cells are an early predictor in renal cell carcinoma for tumor response to sunitinib. BMC Cancer 2010, 10:695.
27. Farace F., Gross-Goupil M., Tournay E., et al. Levels of circulating CD45(dim)CD34(+)VEGFR2(+) progenitor cells correlate with outcome in metastatic renal cell carcinoma patients treated with tyrosine kinase inhibitors. Br J Cancer 2011, 104:1144-1150.
28. Castellano D., Esteban E., Leon L., et al. Prospective assessment of circulating endothelial cells (CECs) as early markers of clear cell renal cell carcinoma (CCRCC) progression in first line setting: the Circles study (SOGUG 2011-01). J Clin Oncol 2012, 30. [suppl; abstr e15586].
29. Perez-Gracia J.L., Prior C., Guillén-Grima F., et al. Identification of TNF-alpha and MMP-9 as potential baseline predictive serum markers of sunitinib activity in patients with renal cell carcinoma using a human cytokine array. Br J Cancer 2009, 101:1876-1883.
30. Porta C., Paglino C., Imarisio I., et al. Changes in circulating pro-angiogenic cytokines, other than VEGF, before progression to sunitinib therapy in advanced renal cell carcinoma patients. Oncology 2013, 84:115-122.
31. DePrimo S.E., Bello C.L., Meraglia J., et al. Circulating protein biomarkers of pharmacodynamic activity of sunitinib in patients with metastatic renal cell carcinoma: modulation of VEGF and VEGF-related proteins. J Transl Med 2007, 5:32.
32. Rini B.I. Antitumor activity and biomarker analysis of sunitinib in patients with bevacizumab-refractory metastatic renal cell carcinoma. J Clin Oncol. 1 2008, 26:3743-3748.
33. Gámez-Pozo A., Antón-Aparicio L.M., Bayona C., et al. MicroRNA expression profiling of peripheral blood samples predicts resistance to first-line sunitinib in advanced renal cell carcinoma patients. Neoplasia 2012, 14:1144-1152.
34. Berkers J., Govaere O., Wolter P., et al. A possible role for microRNA-141 down-regulation in sunitinib resistant metastatic clear cell renal cell carcinoma through induction of epithelial-to-mesenchymal transition and hypoxia resistance. J Urol 2013, 189:1930-1938.
35. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 2013, 499:43-49. Cancer Genome Atlas Research Network.
36. Motzer R.J., Hutson T.E., Cella D., et al. Pazopanib versus sunitinib in metastatic renal-cell carcinoma. N Engl J Med 2013, 369:722-731.
37. Chun-fang, Xu Johnson, TobyChoueiriToni K et al. Association of IL8 polymorphisms with overall survival in patients with renal cell carcinoma in COMPARZ (pazopanib versus sunitinib phase III study). J Clin Oncol 2013;31: 4519 [No 15 suppl (May 20 Supplement].
38. Tran H.T., Liu Y., Zurita A.J., et al. Prognostic or predictive plasma cytokines and angiogenic factors for patients treated with pazopanib for metastatic renal-cell cancer: a retrospective analysis of phase 2 and phase 3 trials. Lancet Oncol 2012, 13:827-837.
39. Pena C., Lathia C., Shan M., Escudier B., Bukowski R.M. Biomarkers predicting outcome in patients with advanced renal cell carcinoma: results from sorafenib phase III treatment approaches in renal cancer global evaluation trial. Clin Cancer Res 2010, 16:4853-4863.
40. Choueiri T.K., Regan M.M., Rosenberg J.E., et al. Carbonic anhydrase IX and pathological features as predictors of outcome in patients with metastatic clear-cell renal cell carcinoma receiving vascular endothelial growth factor-targeted therapy. BJU Int 2010, 106:772-778.
41. Choueiri T.K., Cheng S., Qu A.Q., et al. Carbonic anhydrase IX as a potential biomarker of efficacy in metastatic clear-cell renal cell carcinoma patients receiving sorafenib or placebo: analysis from the treatment approaches in renal cancer global evaluation trial (TARGET). Urol Oncol 2013, 31:1788-1793.
42. Jonasch E., Corn P., Pagliaro L.C., et al. Upfront, randomized, phase 2 trial of sorafenib versus sorafenib and low-dose interferon alfa in patients with advanced renal cell carcinoma: clinical and biomarker analysis. Cancer 2010, 116:57-65.
43. Jain L., Sissung T.M., Danesi R., et al. Hypertension and hand-foot skin reactions related to VEGFR2 genotype and improved clinical outcome following bevacizumab and sorafenib. J Exp Clin Cancer Res 2010, 29:95.
44. Peer C.J., Sissung T.M., Kim A., et al. Sorafenib is an inhibitor of UGT1A1 but is metabolized by UGT1A9: implications of genetic variants on pharmacokinetics and hyperbilirubinemia. Clin Cancer Res 2012, 18:2099-2107.
45. Zurita A.J., Jonasch E., Wang X., et al. A cytokine and angiogenic factor (CAF) analysis in plasma for selection of sorafenib therapy in patients with metastatic renal cell carcinoma. Ann Oncol 2012, 23:46-52.
46. Schneider B.P., Wang M., Radovich M., et al. Association of vascular endothelial growth factor and vascular endothelial growth factor receptor-2 genetic polymorphisms with outcome in a trial of paclitaxel compared with paclitaxel plus bevacizumab in advanced breast cancer: ECOG 2100. J Clin Oncol 2008, 26:4672-4678.
47. Etienne-Grimaldi M.C., Bennouna J., Formento J.L., et al. Multifactorial pharmacogenetic analysis in colorectal cancer patients receiving 5-fluorouracil-based therapy together with cetuximab-irinotecan. Br J Clin Pharmacol 2012, 73:776-785.
48. Loupakis F., Ruzzo A., Salvatore L., et al. Retrospective exploratory analysis of VEGF polymorphisms in the prediction of benefit from first-line FOLFIRI plus bevacizumab in metastatic colorectal cancer. BMC Cancer 2011, 11:247.
49. Koutras A.K., Antonacopoulou A.G., Eleftheraki, et al. Vascular endothelial growth factor polymorphisms and clinical outcome in colorectal cancer patients treated with irinotecan-based chemotherapy and bevacizumab. Pharmacogenomics J 2012, 12:468-475.
50. Tsavachidou-Fenner D., Tannir N., Tamboli P., et al. Gene and protein expression markers of response to combined antiangiogenic and epidermal growth factor targeted therapy in renal cell carcinoma. Ann Oncol 2010, 21:1599-1606.
51. Escudier B.L.A., Kaprin A., et al. Association of single nucleotide polymorphisms (SNPs) in VEGF pathway genes with progression-free survival (PFS) and blood pressure (BP) in metastatic renal cell carcinoma (mRCC) in the phase 3 trial of axitinib versus sorafenib (AXIS trial) cell carcinoma (mRCC) in the phase 3 trial of axitinib versus sorafenib (AXIS trial). Eur J Cancer 2012, 47:S505.
52. Cho D., Signoretti S., Dabora S., et al. Potential histologic and molecular predictors of response to temsirolimus in patients with advanced renal cell carcinoma. Clin Genitourin Cancer 2007, 5:379-385.
53. Hudes G., Carducci M., Tomczak P., et al. Temsirolimus, interferon alfa, or both for advanced renal-cell carcinoma. N Engl J Med 2007, 356:2271-2281.
54. Figlin R.A., de Souza P., McDermott D., et al. Analysis of PTEN and HIF-1alpha and correlation with efficacy in patients with advanced renal cell carcinoma treated with temsirolimus versus interferon-alpha. Cancer 2009, 115:3651-3660.
55. Armstrong A.J., George D.J., Halabi S. Serum lactate dehydrogenase predicts for overall survival benefit in patients with metastatic renal cell carcinoma treated with inhibition of mammalian target of rapamycin. J Clin Oncol 2012, 30:3402-3407.
56. Motzer R.J., Escudier B., Oudard S., et al. Phase 3 trial of everolimus for metastatic renal cell carcinoma : final results and analysis of prognostic factors. Cancer 2010, 116:4256-4265.
57. Gigante M., Li G., Ferlay C., Perol D., et al. Prognostic value of serum CA9 in patients with metastatic clear cell renal cell carcinoma under targeted therapy. Anticancer Res 2012, 32:5447-5451.
58. Choueiri T.K., Vaishampayan U., Rosenberg J.E., et al. Phase II and biomarker study of the dual MET/VEGFR2 inhibitor foretinib in patients with papillary renal cell carcinoma. J Clin Oncol 2013, 31:181-186.
59. Rodríguez-Antona C., García-Donas J. Constitutional genetic variants as predictors of antiangiogenic therapy outcome in renal cell carcinoma. Pharmacogenomics 2012, 13:1621-1633.