Analysis of VHL gene alterations and their relationship to clinical parameters in sporadic conventional renal cell carcinoma

Clinical Cancer Research

Volumn 15, Issue 24, 2009, Pages 7582-7592

  Young, Alison C ^a   Craven, Rachel A ^a   Cohen, Dena ^b   Taylor, Claire ^a   Booth, Christopher ^a   Harnden, Patricia ^a   Cairns, David A ^a   Astuti, Dewi ^c   Gregory, Walter ^b   Maher, Eamonn R ^c   Knowles, Margaret A ^a   Joyce, Adrian ^a   Selby, Peter J ^a   Banks, Rosamonde E ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; VON HIPPEL LINDAU PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CANCER GRADING; CLEAR CELL CARCINOMA; COHORT ANALYSIS; EPIGENETICS; FEMALE; GENE INACTIVATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; METHYLATION; NECROSIS; OVERALL SURVIVAL; PARAMETER; PATHOLOGY; PRIORITY JOURNAL; PROMOTER REGION; SAMPLE; SEX; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR;

EID: 73349089306     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-09-2131     Document Type: Article

References (50)

1. Cohen HT, McGovern FJ. Renal-cell carcinoma. N Engl J Med 2005;353:2477-90.
2. Drucker BJ. Renal cell carcinoma: current status and future prospects. Cancer Treat Rev 2005;31: 536-45.
3. Rini BI. Vascular endothelial growth factortargeted therapy in metastatic renal cell carcinoma. Cancer 2009;115:2306-12.
4. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
5. Ashida S, Furihata M, Tanimura M, et al. Molecular detection of von Hippel-Lindau gene mutations in urine and lymph node samples in patients with renal cell carcinoma: potential biomarkers for early diagnosis and postoperative metastatic status. J Urol 2003;169:2089-93.
6. Ashida S, Okuda H, Chikazawa M, et al. Detection of circulating cancer cells with von hippellindau gene mutation in peripheral blood of patients with renal cell carcinoma. Clin Cancer Res 2000;6:3817-22.
7. Atkins DJ, Gingert C, Justenhoven C, et al. Concomitant deregulation of HIF1α and cell cycle proteins in VHL-mutated renal cell carcinomas. Virchows Arch 2005;447:634-42.
8. Bailly M, Bain C, Favrot MC, Ozturk M. Somatic mutations of von Hippel-Lindau (VHL) tumorsuppressor gene in European kidney cancers. Int J Cancer 1995;63:660-4.
9. Banks RE, Tirukonda P, Taylor C, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res 2006;66:2000-11.
10. Barnabas N, Amin MB, Pindolia K, Nanavati R, Worsham MJ. Mutations in the von Hippel-Lindau (VHL) gene refine differential diagnostic criteria in renal cell carcinoma. J Surg Oncol 2002;80:52-60.
11. Brauch H, Weirich G, Brieger J, et al. VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. Cancer Res 2000;60:1942-8.
12. Brauch H, Weirich G, Klein B, Rabstein S, Bolt HM, Bruning T. VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference? Toxicol Lett 2004; 151:301-10.
13. Brieger J, Weidt EJ, Gansen K, Decker HJ. Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence- labelled base excision sequence scanning (F-BESS). Clin Genet 1999;56:210-5.
14. Charbotel B, Gad S, Caiola D, et al. Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma. J Occup Med Toxicol 2007;2:13.
15. Foster K, Prowse A, van den Berg A, et al. Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 1994;3:2169-73.
16. Gallou C, Joly D, Mejean A, et al. Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat 1999;13:464-75.
17. Gallou C, Longuemaux S, Delomenie C, et al. Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma. Pharmacogenetics 2001;11:521-35.
18. Gemmill RM, Zhou M, Costa L, Korch C, Bukowski RM, Drabkin HA. Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma. Br J Cancer 2005;92:2266-77.
19. Gervais ML, Henry PC, Saravanan A, et al. Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma. Lab Invest 2007;87:1252-64.
20. Gimenez-Bachs JM, Salinas-Sanchez AS, Sanchez-Sanchez F, et al. Determination of vhl gene mutations in sporadic renal cell carcinoma. Eur Urol 2006;49:1051-7.
21. Gnarra JR, Tory K, Weng Y, et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet 1994;7:85-90.
22. Gordan JD, Lal P, Dondeti VR, et al. HIF-α effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma. Cancer Cell 2008;14:435-46.
23. Hamano K, Esumi M, Igarashi H, et al. Biallelic inactivation of the von Hippel-Lindau tumor suppressor gene in sporadic renal cell carcinoma. J Urol 2002;167:713-7.
24. He Z, Liu S, Guo M, Mao J, Hughson MD. Expression of fibronectin and HIF-1α in renal cell carcinomas: relationship to von Hippel-Lindau gene inactivation. Cancer Genet Cytogenet 2004;152:89-94.
25. Hughson MD, He Z, Liu S,Coleman J,Shingleton WB. Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene. Cancer Genet Cytogenet 2003; 143:145-53.
26. Igarashi H, Esumi M, Ishida H, Okada K. Vascular endothelial growth factor overexpression is correlated with von Hippel-Lindau tumor suppressor gene inactivation in patients with sporadic renal cell carcinoma. Cancer 2002;95: 47-53.
27. Kenck C, Wilhelm M, Bugert P, Staehler G, Kovacs G. Mutation of the VHL gene is associated exclusively with the development of nonpapillary renal cell carcinomas. J Pathol 1996; 179:157-61.
28. Kim JH, Jung CW, Cho YH, et al. Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma. Oncol Rep 2005;13:859-64.
29. Kondo K, Yao M, Yoshida M, et al. Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. Genes Chromosomes Cancer 2002;34:58-68.
30. LemmI, Lingott A, Pogge v Strandmann E, et al. Loss of HNF1α function in human renal cell carcinoma: frequent mutations in the VHL gene but not the HNF1α gene. Mol Carcinog 1999;24:305-14.
31. Ma X, Yang K, Lindblad P, Egevad L, Hemminki K. VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium. Oncogene 2001;20: 5393-400.
32. Meyer AJ, Hernandez A, Florl AR, et al. Novel mutations of the von hippel-lindau tumor-suppressor gene and rare DNA hypermethylation in renal-cell carcinoma cell lines of the clear-cell type. Int J Cancer 2000;87:650-3.
33. NaX,WuG,RyanCK,SchoenSR,di'Santagnese PA, Messing EM. Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 α expression in renal cell carcinomas. J Urol 2003;170:588-92.
34. Nickerson ML, Jaeger E, Shi Y, et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res 2008;14:4726-34.
35. Oh RR, Park JY, Lee JH, et al. Expression of HGF/SF and Met protein is associated with genetic alterations of VHL gene in primary renal cell carcinomas. APMIS 2002;110:229-38.
36. Patard JJ, Fergelot P, Karakiewicz PI, et al. Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma. Int J Cancer 2008;123:395-400.
37. Rad FH, Ulusakarya A, Gad S, et al. Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells. Am J Hematol 2008;83:155-8.
38. Rini BI, 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;98:756-62.
39. Schraml P, Struckmann K, Hatz F, et al. VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma. J Pathol 2002;196:186-93.
40. Shuin T, Kondo K, Torigoe S, et al. Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res 1994;54:2852-5.
41. Suzuki H, Ueda T, Komiya A, et al. Mutational state of von Hippel-Lindau and adenomatous polyposis coli genes in renal tumors. Oncology 1997;54:252-7.
42. Tsutsumi H, Miyamoto C, Furuichi Y, Yoshiike M, Nozawa S, Iwamoto T. VHL tumor suppressor gene: its mutation and protein level in renal cell carcinoma. Oncol Rep 2003;10:1357-61.
43. van Houwelingen KP, van Dijk BA, Hulsbergenvan de Kaa CA, et al. Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study. BMC Cancer 2005;5:57.
44. Whaley JM, Naglich J, Gelbert L, et al. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 1994; 55:1092-102.
45. Wiesener MS, Seyfarth M, Warnecke C, et al. Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. Blood 2002;99:3562-5.
46. Yao M, Yoshida M, Kishida T, et al. VHL tumor suppressor gene alterations associated with good prognosis in sporadic clear-cell renal carcinoma. J Natl Cancer Inst 2002;94:1569-75.
47. Pavlovich CP, Padilla-Nash H, Wangsa D, et al . Patterns of aneuploidy in stage IV clear cell renal cell carcinoma revealed by comparative genomic hybridization and spectral karyotyping. Genes Chromosomes Cancer 2003;37: 252-60.
48. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol 2004;22: 4991-5004.
49. Kovacs G, Akhtar M, Beckwith BJ, et al. The Heidelberg classification of renal cell tumours. J Pathol 1997;183:131-3.
50. Choueiri TK, Vaziri SA, 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;180:860-5.