nach oben

Current Oncology Reports

Erschienen in:

01.06.2012 | Genitourinary Cancers (E Jonasch, Section Editor)

Renal Cell Carcinoma Deep Sequencing: Recent Developments

verfasst von: Leslie J. Farber, Kyle Furge, Bin Tean Teh

Erschienen in: Current Oncology Reports | Ausgabe 3/2012

Einloggen, um Zugang zu erhalten

Abstract

Renal cell carcinoma (RCC) is the most common type of renal cancer in adults. RCC is notoriously resistant to current therapies suggesting the need to improve our knowledge and create more effective therapies. The molecular genetic defects that occur in RCC are extensive and complex ranging from single DNA changes, to large chromosomal defects, to signature disruptions in the transcription of hundreds of genes. These changes are often shared within each histological RCC subtype, illustrating their significance to the disease phenotype. This review presents an overview of the genetic abnormalities that occur within the most common subtypes of RCC. We discuss the recent molecular findings that have advanced our understanding of the somatic architecture of renal tumors and their impact on disease therapeutics.

Jemal A, Siegel R, Ward E, et al. Cancer statistics, 2009. CA Cancer J Clin. 2009;59:225–49.PubMedCrossRef

Maher ER, Kaelin Jr WG. von Hippel-Lindau disease. Med (Baltimore). 1997;76:381–91.CrossRef

Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260(5112):1317–20.PubMedCrossRef

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(15):4726–34.PubMedCrossRef

Beroukhim R, Brunet JP, Di Napoli A, et al. Patterns of gene expression and copy-number alterations in von-hippel lindau disease-associated and sporadic clear cell carcinoma of the kidney. Cancer Res. 2009;69(11):4674–81.PubMedCrossRef

Young AP, Schlisio S, Minamishima YA, et al. VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400. Nat Cell Biol. 2008;10:361–9.PubMedCrossRef

Young AP, Kaelin Jr WG. Senescence triggered by the loss of the VHL tumor suppressor. Cell Cycle. 2008;7(12):1709–12.PubMedCrossRef

•• Varela I, Tarpey P, Raine K, et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature. 2011;469(7331):539–42. This study identified the most promising cancer gene associated with ccRCC since VHL as a prognostic and predictive marker.PubMedCrossRef

van Haaften G, Dalgliesh GL, Davies H, et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet. 2009;41(5):521–3.PubMedCrossRef

10.

Dalgliesh GL, Furge K, Greenman C, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature. 2010;463(7279):360–3.PubMedCrossRef

11.

Wiegand KC, Shah SP, Al-Agha OM, et al. ARID1A mutations in endometriosis-associated ovarian carcinomas. N Engl J Med. 2010;363(16):1532–43.PubMedCrossRef

12.

Jones S, Wang TL, Shih IeM, et al. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science. 2010;330(6001):228–31.PubMedCrossRef

13.

Wang X, Nagl Jr NG, Flowers S, et al. Expression of p270 (ARID1A), a component of human SWI/SNF complexes, in human tumors. Int J Cancer. 2004;112(4):636.PubMedCrossRef

14.

Orlovsky K, Kalinkovich A, Rozovskaia T, et al. Down-regulation of homeobox genes MEIS1 and HOXA in MLL-rearranged acute leukemia impairs engraftment and reduces proliferation. Proc Natl Acad Sci U S A. 2011;108(19):7956–61.PubMedCrossRef

15.

Niu X, Zhang T, Liao L, et al. The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C. Oncogene. 2011 Jul 4

16.

Abidi FE, Holloway L, Moore CA, et al. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J Med Genet. 2008;45(12):787–93.PubMedCrossRef

17.

Adegbola A, Gao H, Sommer S, Browning M. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am J Med Genet A. 2008;146A(4):505–11.PubMedCrossRef

18.

Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR, et al. A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett. 2011;498(1):67–71.PubMedCrossRef

19.

Edmunds JW, Mahadevan LC, Clayton AL. Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation. EMBO J. 2008;27(2):406–20.PubMedCrossRef

20.

Duns G, van den Berg E, van Duivenbode I, et al. Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma. Cancer Res. 2010;70(11):4287–91.PubMedCrossRef

21.

Guo G, Gui Y, Gao S, Tang A, et al. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet. 2012;44(1):17–9.CrossRef

22.

Elfving P, Mandahl N, Lundgren R, et al. Prognostic implications of cytogenetic findings in kidney cancer. Br J Urol. 1997;80(5):698–706.PubMedCrossRef

23.

Schullerus D, Herbers J, Chudek J, Kanamaru H, Kovacs G. Loss of heterozygosity at chromosomes 8p, 9p, and 14q is associated with stage and grade of non-papillary renal cell carcinomas. J Pathol. 1997;183(2):151–5.PubMedCrossRef

24.

Herbers J, Schullerus D, Müller H, et al. Significance of chromosome arm 14q loss in nonpapillary renal cell carcinomas. Gene Chromosome Canc. 1997;19(1):29–35.CrossRef

25.

Alimov A, Sundelin B, Wang N, Larsson C, Bergerheim U. Loss of 14q31-q32.2 in renal cell carcinoma is associated with high malignancy grade and poor survival. Int J Oncol. 2004;25(1):179–85.PubMed

26.

Shen C, Beroukhim R, Schumacher SE, et al. Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene. Canc Discov. 2011;1:222–35.CrossRef

27.

• Dondeti VR, Wubbenhorst B, Lal P, et al. Integrative genomic analyses of sporadic clear cell renal cell carcinoma define disease subtypes and potential new therapeutic targets. Cancer Res. 2012;72(1):112–21. This study advances our understanding ccRCCs by identifying two potential chromosome 5q oncogenes.PubMedCrossRef

28.

• Purdue MP, Johansson M, Zelenika D, et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet. 2011;43(1):60–5. This study directly implicates mutations in the HIF to RCC tumorigenesis. PubMedCrossRef

29.

Han SS, Yeager M, Moore LE, et al. The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma. Hum Mol Genet. 2011, Dec 20

30.

Duesberg P, Stindl R, Li R, et al. Aneuploidy verses gene mutations as cause of cancer. Curr Sci. 2001;81:490–500.

31.

Kovacs G, Akhtar M, Beckwith BJ, et al. The Heidelberg classification of renal cell tumours. J Pathol. 1997;183(2):131–3.PubMedCrossRef

32.

Klatte T, Pantuck AJ, Said JW, et al. Cytogenetic and molecular tumor profiling for type 1 and type 2 papillary renal cell carcinoma. Clin Cancer Res. 2009;15(4):1162–9.PubMedCrossRef

33.

Toma MI, Grosser M, Herr A, et al. Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10 K single nucleotide polymorphism mapping array. Neoplasia. 2008;10(7):634–42.PubMed

34.

Brunelli M, Eccher A, Gobbo S, et al. Loss of chromosome 9p is an independent prognostic factor in patients with clear cell renal cell carcinoma. Mod Pathol. 2008;21(1):1–6.PubMedCrossRef

35.

Hagenkord JM, Parwani AV, Lyons-Weiler MA, et al. Virtual karyotyping with SNP microarrays reduces uncertainty in the diagnosis of renal epithelial tumors. Diagn Pathol. 2008;3:44.PubMedCrossRef

36.

Cohen AJ, Li FP, Berg S, et al. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med. 1979;301(11):592–5.PubMedCrossRef

37.

Zbar B, Brauch H, Talmadge C, Linehan M. Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature. 1987;327(6124):721–4.PubMedCrossRef

38.

Kovacs G, Brusa P. Recurrent genomic rearrangements are not at the fragile sites on chromosomes 3 and 5 in human renal cell carcinomas. Hum Genet. 1988;80:99–101.PubMedCrossRef

39.

Glover TW, Coyle-Morris JF, Li FP, et al. Translocation t(3;8)(p14.2;q24.1) in renal cell carcinoma affects expression of the common fragile site at 3p14(FRA3B) in lymphocytes. Canc Genet Cytogenet. 1988;31(1):69–73.CrossRef

40.

Tajara EH, Berger CS, Hecht BK, et al. Loss of common 3p14 fragile site expression in renal cell carcinoma with deletion breakpoint at 3p14. Canc Genet Cytogenet. 1988;31(1):75–82.CrossRef

41.

Shridhar V, Rivard S, Shridhar R, et al. A gene from human chromosomal band 3p21.1 encodes a highly conserved arginine-rich protein and is mutated in renal cell carcinomas. Oncogene. 1996;12(9):1931–9.PubMed

42.

Gunawan B, Huber W, Holtrup M, 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. 2001;61:7731–8.PubMed

43.

Monzon FA, Alvarez K, Peterson L, et al. Chromosome 14q loss defines a molecular subtype of clear-cell renal cell carcinoma associated with poor prognosis. Mod Pathol. 2011;24:1470–9.PubMedCrossRef

44.

Moch H, Presti Jr JC, Sauter G, et al. Genetic aberrations detected by comparative genomic hybridization are associated with clinical outcome in renal cell carcinoma. Cancer Res. 1996;56(1):27–30.PubMed

45.

Nagao K, Yamaguchi S, Matsuyama H, et al. Allelic loss of 3p25 associated with alterations of 5q22.3 approximately q23.2 may affect the prognosis of conventional renal cell carcinoma. Canc Genet Cytogenet. 2005;160(1):43–8.CrossRef

46.

Junker K, Moravek P, Podhola M, et al. Genetic alterations in metastatic renal cell carcinoma detected by comparative genomic hybridization: correlation with clinical and histological data. Int J Oncol. 2000;17(5):903–8.PubMed

47.

Amin MB, Corless CL, Renshaw AA, Tickoo SK, Kubus J, Schultz DS. Papillary (chromophil) renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases. Am J Surg Pathol. 1997;21(6):621–35.PubMedCrossRef

48.

Jiang F, Richter J, Schraml P, et al. Chromosomal imbalances in papillary renal cell carcinoma: genetic differences between histological subtypes. Am J Pathol. 1998;153(5):1467–73.PubMedCrossRef

49.

Delahunt B, Furge K, Greenman C, et al. Morphologic typing of papillary renal cell carcinoma: comparison of growth kinetics and patient survival in 66 cases. Hum Pathol. 2001;32(6):590–5.PubMedCrossRef

50.

Pignot G, Elie C, Conquy S, et al. Survival analysis of 130 patients with papillary renal cell carcinoma: prognostic utility of type 1 and type 2 subclassification. Urology. 2007;69(2):230–5.PubMedCrossRef

51.

Gunawan B, von Heydebreck A, Fritsch T, et al. Cytogenetic and morphologic typing of 58 papillary renal cell carcinomas: evidence for a cytogenetic evolution of type 2 from type 1 tumors. Cancer Res. 2003;63(19):6200–5.PubMed

52.

Waldert M, Haitel A, Marberger M, et al. Comparison of type I and II papillary renal cell carcinoma (RCC) and clear cell RCC. BJU Int. 2008;102(10):1381–4.PubMed

53.

Yang XJ, Tan MH, Kim HL, et al. A molecular classification of papillary renal cell carcinoma. Cancer Res. 2005;65(13):5628–37.PubMedCrossRef

54.

Furge KA, Tan MH, Dykema K, et al. Identification of deregulated oncogenic pathways in renal cell carcinoma: an integrated oncogenomic approach based on gene expression profiling. Oncogene. 2007;26(9):1346–50.PubMedCrossRef

55.

Schmidt L, Duh FM, Chen F, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet. 1997;16(1):68–73.PubMedCrossRef

56.

Schmidt L, Junker K, Nakaigawa N, et al. Novel mutations of the MET proto-oncogene in papillary renal carcinomas. Oncogene. 1999;18(14):2343–50.PubMedCrossRef

57.

Lubensky IA, Schmidt L, Zhuang Z, et al. Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype. Am J Pathol. 1999;155(2):517–26.PubMedCrossRef

58.

Bellon SF, Kaplan-Lefko P, Yang Y, et al. c-Met inhibitors with novel binding mode show activity against several hereditary papillary renal cell carcinoma-related mutations. J Biol Chem. 2008;283(5):2675–83.PubMedCrossRef

59.

Koski TA, Lehtonen HJ, Jee KJ, et al. Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. Gene Chromosome Canc. 2009;48(7):544–51.CrossRef

60.

Looyenga BD, Furge KA, Dykema KJ, et al. Chromosomal amplification of leucine-rich repeat kinase-2 (LRRK2) is required for oncogenic MET signaling in papillary renal and thyroid carcinomas. Proc Natl Acad Sci U S A. 2011;108(4):1439–44.PubMedCrossRef

61.

Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002;30(4):406–10.PubMedCrossRef

62.

Toro JR, Nickerson ML, Wei MH, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73(1):95–106.PubMedCrossRef

63.

Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, et al. Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet. 2006;43(6):523–6.PubMedCrossRef

64.

Refae MA, Wong N, Patenaude F, et al. Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract Oncol. 2007;4(4):256–61.PubMedCrossRef

65.

Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45(6):321–31.PubMedCrossRef

66.

Wei MH, Toure O, Glenn GM, et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006;43(1):18–27.PubMedCrossRef

67.

Lehtonen HJ, Blanco I, Piulats JM, et al. Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol. 2007;38(5):793–6.PubMedCrossRef

68.

Adam J, Hatipoglu E, O’Flaherty L, et al. Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathways: roles for fumarate in KEAP1 succination and Nrf2 signaling. Canc Cell. 2011;20:524–37.CrossRef

69.

Ooi A, Wong JC, Petillo D, et al. An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma. Canc Cell. 2011;20:511–23.CrossRef

70.

Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. Mod Pathol. 1997;10(6):537–44.PubMed

71.

Schuetz AN, Yin-Goen Q, Amin MB, et al. Molecular classification of renal tumors by gene expression profiling. J Mol Diagn. 2005;7(2):206–18.PubMedCrossRef

72.

Mayr JA, Meierhofer D, Zimmermann F, et al. Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma. Clin Cancer Res. 2008;14(8):2270–5.PubMedCrossRef

73.

Gasparre G, Hervouet E, de Laplanche E, et al. Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet. 2008;17(7):986–95.PubMedCrossRef

74.

Kovacs A, Storkel S, Thoenes W, Kovacs G. Mitochondrial and chromosomal DNA alterations in human chromophobe renal cell carcinomas. J Pathol. 1992;167(3):273–7.PubMedCrossRef

75.

Welter C, Kovacs G, Seitz G, Blin N. Alteration of mitochondrial DNA in human oncocytomas. Gene Chromosome Canc. 1989;1(1):79–82.CrossRef

76.

Brunelli M, Eble JN, Zhang S, et al. Eosinophilic and classic chromophobe renal cell carcinomas have similar frequent losses of multiple chromosomes from among chromosomes 1, 2, 6, 10, and 17, and this pattern of genetic abnormality is not present in renal oncocytoma. Mod Pathol. 2005;18(2):161–9.PubMedCrossRef

77.

Takahashi M, Yang XJ, Sugimura J, et al. Molecular sub-classification of kidney cancer and the discovery of new diagnostic markers. Oncogene. 2003;22:6810–8.PubMedCrossRef

78.

Higgins JP, Shinghal R, Gill H, et al. Gene expression patterns in renal cell carcinoma assessed by complementary DNA microarray. Am J Pathol. 2003;162(3):925–32.PubMedCrossRef

79.

Brown JA, Takahashi S, Alcaraz A, et al. Fluorescence in situ hybriziation analysis of renal oncocytoma reveals frequent loss of chromosomes Y and 1. J Urol. 1996;156:31–5.PubMedCrossRef

80.

Paner GP, Lindgren V, Jacobson K, et al. High incidence of chromosome 1 abnormalities in a series of 27 renal oncocytomas: cytogenetic and fluorescence in situ hybridzation studies. Arch Pathol Lab Med. 2006;131:81–5.

81.

Fuzesi L, Gunawan B, Braun S, et al. Cytogenetic analysis of 11 renal oncocytomas: further evidence of structural rearrangments of 11q13 as a characteristics of chromosomal anomaly. Canc Genet Cytogenet. 1999;107:1–6.CrossRef

82.

Takahashi M, Rhodes DR, Furge KA, et al. Gene expression profiling of clear cell renal cell carcinoma: gene identification and prognostic classification. Proc Natl Acad Sci U S A. 2001;98(17):9754–9.PubMedCrossRef

83.

Gieseg MA, Cody T, Man MZ, et al. Expression profiling of human renal carcinomas with functional taxonomic analysis. BMC Bioinforma. 2002;3:26.CrossRef

84.

Boer JM, Huber WK, Sültmann H, et al. Identification and classification of differentially expressed genes in renal cell carcinoma by expression profiling on a global human 31,500-element cDNA array. Genome Res. 2001;11(11):1861–70.PubMed

85.

Jones J, Otu H, Spentzos D, et al. Gene signatures of progression and metastasis in renal cell cancer. Clin Cancer Res. 2005;11(16):5730–9.PubMedCrossRef

86.

Liou LS, Shi T, Duan ZH, et al. Microarray gene expression profiling and analysis in renal cell carcinoma. BMC Urol. 2004;4:9.PubMedCrossRef

87.

Yamazaki K, Sakamoto M, Ohta T, et al. Overexpression of KIT in chromophobe renal cell carcinoma. Oncogene. 2003;22(6):847–52.PubMedCrossRef

88.

Skubitz KM, Skubitz AP. Differential gene expression in renal-cell cancer. J Lab Clin Med. 2002;140(1):52–64.PubMedCrossRef

89.

Skubitz KM, Zimmermann W, Kammerer R, et al. Differential gene expression identifies subgroups of renal cell carcinoma. J Lab Clin Med. 2006;147(5):250–67.PubMedCrossRef

90.

Furge KA, Dykema K, Petillo D, et al. Combining differential expression, chromosomal and pathway analyses for the molecular characterization of renal cell carcinoma. Can Urol Assoc J. 2007;1(2 Suppl):S21–7.PubMed

91.

Zhou M, Kort E, Hoekstra P, et al. Adult cystic nephroma and mixed epithelial and stromal tumor of the kidney are the same disease entity: molecular and histologic evidence. Am J Surg Pathol. 2009;33(1):72–80.PubMedCrossRef

92.

Moch H, Schraml P, Bubendorf L, et al. High-throughput tissue microarray analysis to evaluate genes uncovered by cDNA microarray screening in renal cell carcinoma. Am J Pathol. 1999;154(4):981–6.PubMedCrossRef

93.

Li G, Barthelemy A, Feng G, et al. S100A1: a powerful marker to differentiate chromophobe renal cell carcinoma from renal oncocytoma. Histopathology. 2007;50(5):642–7.PubMedCrossRef

94.

Lin F, Yang W, Betten M, et al. Expression of S-100 protein in renal cell neoplasms. Hum Pathol. 2006;37(4):462–70.PubMedCrossRef

95.

Rocca PC, Brunelli M, Gobbo S, et al. Diagnostic utility of S100A1 expression in renal cell neoplasms: an immunohistochemical and quantitative RT-PCR study. Mod Pathol. 2007;20(7):722–8.PubMedCrossRef

96.

Yao M, Huang Y, Shioi K, et al. Expression of adipose differentiation-related protein: a predictor of cancer-specific survival in clear cell renal carcinoma. Clin Cancer Res. 2007;13(1):152–60.PubMedCrossRef

97.

Kosari F, Parker AS, Kube DM, et al. Clear cell renal cell carcinoma: gene expression analyses identify a potential signature for tumor aggressiveness. Clin Cancer Res. 2005;11(14):5128–39.PubMedCrossRef

98.

Zhao H, Ljungberg B, Grankvist K, et al. Gene expression profiling predicts survival in conventional renal cell carcinoma. PLoS Med. 2006;3(1):e13.PubMedCrossRef

99.

Tsui KH, Shvarts O, Smith RB, et al. Prognostic indicators for renal cell carcinoma: a multivariate analysis of 643 patients using the revised 1997 TNM staging criteria. J Urol. 2000;163(4):1090–5. quiz 1295.PubMedCrossRef

100.

Gettman MT, Blute ML, Spotts B, et al. Pathologic staging of renal cell carcinoma: significance of tumor classification with the 1997 TNM staging system. Cancer. 2001;91(2):354–61.PubMedCrossRef

101.

Han KR, Bleumer I, Pantuck AJ, et al. Validation of an integrated staging system toward improved prognostication of patients with localized renal cell carcinoma in an international population. J Urol. 2003;170(6 Pt 1):2221–4.PubMedCrossRef

102.

Zisman A, Pantuck AJ, Dorey F, et al. Improved prognostication of renal cell carcinoma using an integrated staging system. J Clin Oncol. 2001;19(6):1649–57.PubMed

103.

Staller P, Sulitkova J, Lisztwan J, et al. Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL. Nature. 2003;425(6955):307–11.PubMedCrossRef

104.

Yao M, Tabuchi H, Nagashima Y, et al. Gene expression analysis of renal carcinoma: adipose differentiation-related protein as a potential diagnostic and prognostic biomarker for clear-cell renal carcinoma. J Pathol. 2005;205(3):377–87.PubMedCrossRef

105.

Desai KV, Xiao N, Wang W, et al. Initiating oncogenic event determines gene-expression patterns of human breast cancer models. Proc Natl Acad Sci U S A. 2002;99(10):6967–72.PubMedCrossRef

106.

Ferrando AA, Neuberg DS, Staunton J, et al. Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia. Canc Cell. 2002;1(1):75–87.CrossRef

107.

Huang E, Ishida S, Pittman J, et al. Gene expression phenotypic models that predict the activity of oncogenic pathways. Nat Genet. 2003;34:226–30.PubMedCrossRef

108.

Sweet-Cordero A, Mukherjee S, Subramanian A, et al. An oncogenic KRAS2 expression signature identified by cross-species gene-expression analysis. Nat Genet. 2005;37(1):48–55.PubMed

109.

Bild AH, Yao G, Chang JT, et al. Oncogenic pathway signatures in human cancers as a guide to targeted therapies. Nature. 2006;439:353–7.PubMedCrossRef

110.

Chi JT, Wang Z, Nuyten DS, et al. Gene expression programs in response to hypoxia: cell type specificity and prognostic significance in human cancers. PLoS Med. 2006;3(3):e47.PubMedCrossRef

111.

Subramanian A, Tamayo P, Mootha VK, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A. 2005;102(43):15545–50.PubMedCrossRef

112.

Kim S, Volsky DJ. PAGE: parametric analysis of gene set enrichment. BMC Bioinforma. 2005;6:144.CrossRef

113.

Riss J, Khanna C, Koo S, et al. Cancers as wounds that do not heal: differences and similarities between renal regeneration/repair and renal cell carcinoma. Cancer Res. 2006;66(14):7216–24.PubMedCrossRef

114.

Copland JA, Luxon BA, Ajani L, et al. Genomic profiling identifies alterations in TGFbeta signaling through loss of TGFbeta receptor expression in human renal cell carcinogenesis and progression. Oncogene. 2003;22(39):8053–62.PubMedCrossRef

115.

Furge KA, Chen J, Koeman J, et al. Detection of DNA copy number changes and oncogenic signaling abnormalities from gene expression data reveals MYC activation in high-grade papillary renal cell carcinoma. Cancer Res. 2007;67(7):3171–6.PubMedCrossRef

Titel: Renal Cell Carcinoma Deep Sequencing: Recent Developments
verfasst von: Leslie J. Farber
Kyle Furge
Bin Tean Teh
Publikationsdatum: 01.06.2012
Verlag: Current Science Inc.
Erschienen in: Current Oncology Reports / Ausgabe 3/2012
Print ISSN: 1523-3790
Elektronische ISSN: 1534-6269
DOI: https://doi.org/10.1007/s11912-012-0230-3

Neu im Fachgebiet Onkologie

24.04.2024 | DGIM 2024 | Nachrichten

Springer Medizin

Renal Cell Carcinoma Deep Sequencing: Recent Developments

Abstract

Neu im Fachgebiet Onkologie

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2012

Immunological Heterogeneity of the RCC Microenvironment: Do Targeted Therapies Influence Immune Response?

Toward the Non-surgical Management of Locally Advanced Rectal Cancer

Pancreatic Neuroendocrine and Carcinoid Tumors: What’s New, What’s Old, and What’s Different?

Management of Hepatocellular Carcinoma: Beyond Sorafenib

Circulating Biomarkers in Advanced Renal Cell Carcinoma: Clinical Applications

Neu im Fachgebiet Onkologie

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Krebspatienten impfen: Was? Wen? Und wann nicht?

Müde im Alter? Auch an die Nebenniere denken

Update Onkologie