Genetic profiles in renal tumors: Review Article

International Journal of Urology

Volumn 17, Issue 1, 2010, Pages 6-19

  Lopez Beltran, Antonio ^a,b   Montironi, Rodolfo ^c   Egevad, Lars ^d   Caballero Vargas, Maria T ^b   Scarpelli, Marina ^c   Kirkali, Ziya ^e   Cheng, Liang ^f  

^a Universidad de Cordoba   (Spain)

^b UNIVERSITY OF CÓRDOBA   (Spain)

^c UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^d KAROLINSKA INSTITUTE   (Sweden)

^e DOKUZ EYLUL UNIVERSITY   (Turkey)

^f INDIANA UNIVERSITY   (United States)

Author keywords

Classification; Differential diagnosis; Kidney; Molecular genetics; Renal neoplasms; Tumor origin

Indexed keywords

CHROMOSOME DELETION; CHROMOSOME LOSS; GENE TRANSLOCATION; HUMAN; KIDNEY CARCINOMA; KIDNEY COLLECTING TUBULE; KIDNEY TUMOR; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; THYROID FOLLICULAR CARCINOMA;

CARCINOMA, RENAL CELL; HUMANS; KIDNEY NEOPLASMS;

EID: 74049158611     PISSN: 09198172     EISSN: 14422042     Source Type: Journal    
DOI: 10.1111/j.1442-2042.2009.02395.x     Document Type: Review

References (139)

1. Lopez-Beltran A, Scarpelli M, Montironi R, Kirkali Z. 2004 WHO classification of the renal tumors of the adults. Eur. Urol. 2006 49 : 798 805.
2. Lopez-Beltran A, Kirkali Z, Cheng L et al. Targeted therapies and biological modifiers in urologic tumors: pathobiology and clinical implications. Semin. Diagn. Pathol. 2008 25 : 232 244.
3. Lopez-Beltran A, Carrasco JC, Cheng L, Scarpelli M, Kirkali Z, Montironi R. 2009 update on the classification of renal epithelial tumors in adults. Int. J. Urol. 2009 16 : 432 443.
4. Algaba F, Trias I, Scarpelli M, Boccon-Gibod L, Kirkali Z, Van Poppel H. Handling and pathology reporting of renal tumor specimens. Eur. Urol. 2004 45 : 437 443. (Pubitemid 38376200)
5. Cheng L, Zhang S, MacLennan GT, Lopez-Beltran A, Montironi R. Molecular and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms. Hum. Pathol. 2009 40 : 10 29.
6. Grignon DJ, Eble JN. Papillary and metanephric adenomas of the kidney. Semin. Diagn. Pathol. 1998 15 : 41 53.
7. Grignon DJ, Che M. Clear cell renal cell carcinoma. Clin. Lab. Med. 2005 25 : 305 316.
8. Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. Mod. Pathol. 1997 10 : 537 544.
9. Eble JN. Mucinous tubular and spindle cell carcinoma and post-neuroblastoma carcinoma: newly recognised entities in the renal cell carcinoma family. Pathology 2003 35 : 499 504.
10. Eble JN, Sauter G, Epstein JI, Sesterhenn IA. Pathology and Genetics. Tumors of the Urinary System and Male Genital Organs. IARC Press, Lyon, 2004.
11. Filosa A, Fabiani A. Renal cell carcinoma: molecular and genetic markers as new prognostic and therapeutic tools. Anal. Quant. Cytol. Histol. 2008 30 : 341 343.
12. Requena MJ, Carrasco JC, Alvarez-Kindelan J. Role of molecular markers in diagnosis and prognosis of renal cell carcinoma. Anal. Quant. Cytol. Histol. 2008 30 : 336 337.
13. Mazzucchelli R, Morichetti D, Giorgini S, Barbisan F. Classification and reclassification of adult renal epithelial tumors. Anal. Quant. Cytol. Histol. 2008 30 : 247 248.
14. Filosa A, Fabiani A. Angiogenesis and molecular markers as specific therapeutic targets in renal cell carcinomas. Anal. Quant. Cytol. Histol. 2008 30 : 185 186.
15. Montironi R, Mikuz G, Algaba F, Lopez-Beltran A, Hamilton PW, Parkinson C. Epithelial tumours of the adult kidney. Virchows Arch. 1999 434 : 281 290.
16. Morichetti D, Mazzucchelli R, Lopez-Beltran A et al. Secondary neoplasms of the urinary system and male genital organs. BJU Int. 2009 104 : 770 776.
17. Thoenes W, Storkel S, Rumpelt HJ, Moll R. Cytomorphological typing of renal cell carcinoma - a new approach. Eur. Urol. 1990 18 (Suppl 2 6 9.
18. Kovacs G, Akhtar M, Beckwith BJ et al. The Heidelberg classification of renal cell tumours. J. Pathol. 1997 183 : 131 133.
19. Amin MB, Gupta R, Ondrej H et al. Primary thyroid-like follicular carcinoma of the kidney: report of 6 cases of a histologically distinctive adult renal epithelial neoplasm. Am. J. Surg. Pathol. 2009 33 : 393 400.
20. Anglard P, Tory K, Brauch H et al. Molecular analysis of genetic changes in the origin and development of renal cell carcinoma. Cancer Res. 1991 51 : 1071 1077.
21. Argani P, Antonescu CR, Illei PB et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Am. J. Pathol. 2001 159 : 179 192.
22. Argani P, Antonescu CR, Couturier J et al. PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am. J. Surg. Pathol. 2002 26 : 1553 1566.
23. Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am. J. Surg. Pathol. 2003 27 : 750 761.
24. Argani P, Lae M, Hutchinson B et al. Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. Am. J. Surg. Pathol. 2005 29 : 230 240.
25. Argani P, Ladanyi M. Translocation carcinomas of the kidney. Clin. Lab. Med. 2005 25 : 363 378.
26. Argani P, Olgac S, Tickoo SK et al. Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am. J. Surg. Pathol. 2007 31 : 1149 1160.
27. Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am. J. Surg. Pathol. 2009 33 : 609 619.
28. Arsanious A, Bjarnason GA, Yousef GM. From bench to bedside: current and future applications of molecular profiling in renal cell carcinoma. Mol. Cancer 2009 8 : 20.
29. Bruder E, Passera O, Harms D et al. Morphologic and molecular characterization of renal cell carcinoma in children and young adults. Am. J. Surg. Pathol. 2004 28 : 1117 1132.
30. Camparo P, Vasiliu V, Molinie V et al. Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am. J. Surg. Pathol. 2008 32 : 656 670.
31. Carcao MD, Taylor GP, Greenberg ML et al. Renal-cell carcinoma in children: a different disorder from its adult counterpart? Med. Pediatr. Oncol. 1998 31 : 153 158.
32. Cheng L, MacLennan GT, Zhang S et al. Evidence for polyclonal origin of multifocal clear cell renal cell carcinoma. Clin. Cancer Res. 2008 14 : 8087 8093.
33. Chudek J, Herbers J, Wilhelm M et al. The genetics of renal tumors in end-stage renal failure differs from those occurring in the general population. J. Am. Soc. Nephrol. 1998 9 : 1045 1051.
34. Clark J, Lu YJ, Sidhar SK et al. Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 1997 15 : 2233 2239.
35. Fine SW, Argani P, DeMarzo AM et al. Expanding the histologic spectrum of mucinous tubular and spindle cell carcinoma of the kidney. Am. J. Surg. Pathol. 2006 30 : 1554 1560.
36. Gobbo S, Eble JN, Maclennan GT et al. Renal cell carcinomas with papillary architecture and clear cell components: the utility of immunohistochemical and cytogenetical analyses in differential diagnosis. Am. J. Surg. Pathol. 2008 32 : 1780 1786.
37. Gobbo S, Eble JN, Grignon DJ et al. Clear cell papillary renal cell carcinoma: a distinct histopathologic and molecular genetic entity. Am. J. Surg. Pathol. 2008 32 : 1239 1245.
38. Bugert P, Kenck C, Wilhelm M, Kovacs G. Refining a proximal breakpoint cluster at chromosome 3p11.2 in non-papillary renal cell carcinomas. Int. J. Cancer 1996 68 : 723 726.
39. Bugert P, Kovacs G. Molecular differential diagnosis of renal cell carcinomas by microsatellite analysis. Am. J. Pathol. 1996 149 : 2081 2088.
40. Hadaczek P, Podolski J, Toloczko A et al. Losses at 3p common deletion sites in subtypes of kidney tumours: histopathological correlations. Virchows Arch. 1996 429 : 37 42.
41. Hughson MD, Dickman K, Bigler SA, Meloni AM, Sandberg AA. Clear-cell and papillary carcinoma of the kidney: an analysis of chromosome 3, 7, and 17 abnormalities by microsatellite amplification, cytogenetics, and fluorescence in situ hybridization. Cancer Genet. Cytogenet. 1998 106 : 93 104.
42. Klatte T, Rao PN, de Martino M et al. Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma. J. Clin. Oncol. 2009 27 : 746 753.
43. Hemminki K, Jiang Y, Ma X, Yang K, Egevad L, Lindblad P. Molecular epidemiology of VHL gene mutations in renal cell carcinoma patients: relation to dietary and other factors. Carcinogenesis 2002 23 : 809 815.
44. 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 5400.
45. Suzigan S, Lopez-Beltran A, Montironi R et al. Multilocular cystic renal cell carcinoma: a report of 45 cases of a kidney tumor of low malignant potential. Am. J. Clin. Pathol. 2006 125 : 217 222.
46. Orikasa K, Orikasa S, Horii A. Identification of a 700-kb region of common allelic loss in chromosome bands 3p14.3-p21.1 in human renal cell carcinoma. Cancer Genet. Cytogenet. 1998 104 : 104 110. (Pubitemid 28309404)
47. 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 : 4674 4681.
48. Bonne AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG. Chromosome 3 translocations and familial renal cell cancer. Curr. Mol. Med. 2004 4 : 849 854.
49. Onay H, Pehlivan S, Koyuncuoglu M, Kirkali Z, Ozkinay F. Multigene methylation analysis of conventional renal cell carcinoma. Urol. Int. 2009 83 : 107 112.
50. Patard JJ, Pouessel D, Bensalah K, Culine S. Targeted therapy in renal cell carcinoma. World J. Urol. 2008 26 : 135 140.
51. Hanna SC, Heathcote SA, Kim WY. mTOR pathway in renal cell carcinoma. Expert Rev. Anticancer Ther. 2008 8 : 283 292.
52. Smaldone MC, Maranchie JK. Clinical implications of hypoxia inducible factor in renal cell carcinoma. Urol. Oncol. 2009 27 : 238 245.
53. Moch H Molecular basis of targeted therapy in metastatic renal cancer Pathologe 2008 29 (Suppl 2 184 186.
54. Morrissey C, Martinez A, Zatyka M et al. Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma. Cancer Res. 2001 61 : 7277 7281.
55. Dammann R, Schagdarsurengin U, Liu L et al. Frequent RASSF1A promoter hypermethylation and K-ras mutations in pancreatic carcinoma. Oncogene 2003 22 : 3806 3812.
56. Herbers J, Schullerus D, Muller H et al. Significance of chromosome arm 14q loss in nonpapillary renal cell carcinomas. Genes Chromosomes Cancer 1997 19 : 29 35.
57. Jones TD, Eble JN, Wang M, Maclennan GT, Jain S, Cheng L. Clonal divergence and genetic heterogeneity in clear cell renal cell carcinomas with sarcomatoid transformation. Cancer 2005 104 : 1195 1203.
58. Lane BR, Li J, Zhou M et al. Differential expression in clear cell renal cell carcinoma identified by gene expression profiling. J. Urol. 2009 181 : 849 860.
59. Martignoni G, Brunelli M, Gobbo S et al. Role of molecular markers in diagnosis and prognosis of renal cell carcinoma. Anal. Quant. Cytol. Histol. 2007 29 : 41 9.
60. Tokinaga K, Okuda H, Nomura A, Ashida S, Furihata M, Shuin T. Hypermethylation of the RASSF1A tumor suppressor gene in Japanese clear cell renal cell carcinoma. Oncol. Rep. 2004 12 : 805 810.
61. Petillo D, Kort EJ, Anema J, Furge KA, Yang XJ, Teh BT. MicroRNA profiling of human kidney cancer subtypes. Int. J. Oncol. 2009 35 : 109 114.
62. Nakada C, Matsuura K, Tsukamoto Y et al. Genome-wide microRNA expression profiling in renal cell carcinoma: significant down-regulation of miR-141 and miR-200c. J. Pathol. 2008 216 : 418 427.
63. Weterman MA, van Groningen JJ, Tertoolen L, van Kessel AG. Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas. Proc. Natl Acad. Sci. USA 2001 98 : 13808 13813.
64. 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 : 151 155.
65. Skalsky YM, Ajuh PM, Parker C, Lamond AI, Goodwin G, Cooper CS. PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors. Oncogene 2001 20 : 178 187.
66. Adley BP, Smith ND, Nayar R, Yang XJ. Birt-Hogg-Dube syndrome: clinicopathologic findings and genetic alterations. Arch. Pathol. Lab. Med. 2006 130 : 1865 1870.
67. Coleman JA, Russo P. Hereditary and familial kidney cancer. Curr. Opin. Urol. 2009 19 : 478 485.
68. Heimann P, El Housni H, Ogur G, Weterman MA, Petty EM, Vassart G. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. Cancer Res. 2001 61 : 4130 4135.
69. Linehan WM, Pinto PA, Bratslavsky G et al. Hereditary kidney cancer: unique opportunity for disease-based therapy. Cancer 2009 115 : 2252 2261.
70. Meloni AM, Dobbs RM, Pontes JE, Sandberg AA. Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype. Cancer Genet. Cytogenet. 1993 65 : 1 6.
71. Merino MJ, Torres-Cabala C, Pinto P, Linehan WM. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am. J. Surg. Pathol. 2007 31 : 1578 1585.
72. Montironi R, Scarpelli M, Martignoni G, Cheng L, Lopez-Beltran A. Splitting and lumping adult renal epithelial tumours: is that what the urologists want? Eur. Urol. 2008 53 : 673 675 discussion 676 680.
73. Sanders ME, Mick R, Tomaszewski JE, Barr FG. Unique patterns of allelic imbalance distinguish type 1 from type 2 sporadic papillary renal cell carcinoma. Am. J. Pathol. 2002 161 : 997 1005.
74. Brunelli M, Eble JN, Zhang S, Martignoni G, Cheng L. Metanephric adenoma lacks the gains of chromosomes 7 and 17 and loss of Y that are typical of papillary renal cell carcinoma and papillary adenoma. Mod. Pathol. 2003 16 : 1060 1063.
75. Brunelli M, Eble JN, Zhang S, Martignoni G, Cheng L. Gains of chromosomes 7, 17, 12, 16, and 20 and loss of Y occur early in the evolution of papillary renal cell neoplasia: a fluorescent in situ hybridization study. Mod. Pathol. 2003 16 : 1053 1059.
76. 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 6.
77. Cossu-Rocca P, Eble JN, Delahunt B et al. Renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are prevalent in papillary renal cell carcinoma. Mod. Pathol. 2006 19 : 488 493.
78. Drut R, Drut RM, Ortolani C. Metastatic metanephric adenoma with foci of papillary carcinoma in a child: a combined histologic, immunohistochemical, and FISH study. Int. J. Surg. Pathol. 2001 9 : 241 247.
79. Fuzesi L, Gunawan B, Bergmann F, Tack S, Braun S, Jakse G. Papillary renal cell carcinoma with clear cell cytomorphology and chromosomal loss of 3p. Histopathology 1999 35 : 157 161.
80. Giubellino A, Linehan WM, Bottaro DP. Targeting the Met signaling pathway in renal cancer. Expert Rev. Anticancer Ther. 2009 9 : 785 793.
81. Hes O, Brunelli M, Michal M et al. Oncocytic papillary renal cell carcinoma: a clinicopathologic, immunohistochemical, ultrastructural, and interphase cytogenetic study of 12 cases. Ann. Diagn. Pathol. 2006 10 : 133 139.
82. Jones EC, Pins M, Dickersin GR, Young RH. Metanephric adenoma of the kidney. A clinicopathological, immunohistochemical, flow cytometric, cytogenetic, and electron microscopic study of seven cases. Am. J. Surg. Pathol. 1995 19 : 615 626.
83. Jones TD, Eble JN, Wang M et al. Molecular genetic evidence for the independent origin of multifocal papillary tumors in patients with papillary renal cell carcinomas. Clin. Cancer Res. 2005 11 : 7226 7233.
84. 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 : 1162 1169.
85. Lefevre M, Couturier J, Sibony M et al. Adult papillary renal tumor with oncocytic cells: clinicopathologic, immunohistochemical, and cytogenetic features of 10 cases. Am. J. Surg. Pathol. 2005 29 : 1576 1581.
86. Mazzucchelli R, Cheng L, Lopez-Beltran A, Scarpelli M, Montironi R. Renal oncocytosis and multiple papillary adenomas with oncocytoma as dominant nodule coexisting with papillary carcinoma in a patient with diabetic glomerulosclerosis, acquired renal cystic disease and B cell lymphoma. APMIS 2008 116 : 934 938.
87. Szponar A, Zubakov D, Pawlak J, Jauch A, Kovacs G. Three genetic developmental stages of papillary renal cell tumors: duplication of chromosome 1q marks fatal progression. Int. J. Cancer 2009 124 : 2071 2076.
88. Zhuang Z, Park WS, Pack S et al. Trisomy 7-harbouring non-random duplication of the mutant MEt allele in hereditary papillary renal carcinomas. Nat. Genet. 1998 20 : 66 9.
89. Shridhar V, Wang L, Rosati R et al. Frequent breakpoints in the region surrounding FRA3B in sporadic renal cell carcinomas. Oncogene 1997 14 : 1269 1277.
90. Granter SR, Fletcher JA, Renshaw AA. Cytologic and cytogenetic analysis of metanephric adenoma of the kidney: a report of two cases. Am. J. Clin. Pathol. 1997 108 : 544 549.
91. Koie T, Yoneyama T, Hashimoto Y et al. An aggressive course of Xp11 translocation renal cell carcinoma in a 28-year-old man. Int. J. Urol. 2009 16 : 333 335.
92. Komai Y, Fujiwara M, Fujii Y et al. Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry. Clin. Cancer Res. 2009 15 : 1170 1176.
93. Tickoo SK, dePeralta-Venturina MN, Harik LR et al. Spectrum of epithelial neoplasms in end-stage renal disease: an experience from 66 tumor-bearing kidneys with emphasis on histologic patterns distinct from those in sporadic adult renal neoplasia. Am. J. Surg. Pathol. 2006 30 : 141 153.
94. 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 : 68 73.
95. Brunelli M, Eble JN, Zhang S, Martignoni G, Delahunt B, Cheng L. 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 : 161 169.
96. Nagy A, Wilhelm M, Sukosd F, Ljungberg B, Kovacs G. Somatic mitochondrial DNA mutations in human chromophobe renal cell carcinomas. Genes Chromosomes Cancer 2002 35 : 256 260.
97. Schwerdtle RF, Storkel S, Neuhaus C et al. Allelic losses at chromosomes 1p, 2p, 6p, 10p, 13q, 17p, and 21q significantly correlate with the chromophobe subtype of renal cell carcinoma. Cancer Res. 1996 56 : 2927 2930.
98. Speicher MR, Schoell B, du Manoir S et al. Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization. Am. J. Pathol. 1994 145 : 356 364.
99. Thoenes W, Storkel S, Rumpelt HJ, Moll R, Baum HP, Werner S. Chromophobe cell renal carcinoma and its variants - a report on 32 cases. J. Pathol. 1988 155 : 277 287.
100. Yusenko MV, Kuiper RP, Boethe T, Ljungberg B, van Kessel AG, Kovacs G. High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas. BMC Cancer 2009 9 : 152.
101. Yamakawa K, Morita R, Takahashi E, Hori T, Ishikawa J, Nakamura Y. A detailed deletion mapping of the short arm of chromosome 3 in sporadic renal cell carcinoma. Cancer Res. 1991 51 : 4707 4711.
102. Crotty TB, Lawrence KM, Moertel CA et al. Cytogenetic analysis of six renal oncocytomas and a chromophobe cell renal carcinoma. Evidence that -Y, -1 may be a characteristic anomaly in renal oncocytomas. Cancer Genet. Cytogenet. 1992 61 : 61 6.
103. Herbers J, Schullerus D, Chudek J et al. Lack of genetic changes at specific genomic sites separates renal oncocytomas from renal cell carcinomas. J. Pathol. 1998 184 : 58 62.
104. Kovacs A, Kovacs G. Low chromosome number in chromophobe renal cell carcinomas. Genes Chromosomes Cancer 1992 4 : 267 268.
105. Montironi R, Mazzucchelli R, Lopez-Beltran A et al. Cystic nephroma and mixed epithelial and stromal tumour of the kidney: opposite ends of the spectrum of the same entity? Eur. Urol. 2008 54 : 1237 1246.
106. Presti JC Jr., Moch H, Reuter VE, Huynh D, Waldman FM. Comparative genomic hybridization for genetic analysis of renal oncocytomas. Genes Chromosomes Cancer 1996 17 : 199 204.
107. Welter C, Kovacs G, Seitz G, Blin N. Alteration of mitochondrial DNA in human oncocytomas. Genes Chromosomes Cancer 1989 1 : 79 82.
108. Cossu-Rocca P, Eble JN, Zhang S et al. Interphase cytogenetic analysis with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in 11 tumors from a patient with bilateral renal oncocytosis. Mod. Pathol. 2008 21 : 498 504.
109. Zanssen S, Gunawan B, Fuzesi L, Warburton D, Schon EA. Renal oncocytomas with rearrangements involving 11q13 contain breakpoints near CCND1. Cancer Genet. Cytogenet. 2004 149 : 120 124.
110. Chao D, Zisman A, Pantuck AJ et al. Collecting duct renal cell carcinoma: clinical study of a rare tumor. J. Urol. 2002 167 : 71 4.
111. Fogt F, Zhuang Z, Linehan WM, Merino MJ. Collecting duct carcinomas of the kidney: a comparative loss of heterozygosity study with clear cell renal cell carcinoma. Oncol. Rep. 1998 5 : 923 926.
112. Fuzesi L, Cober M, Mittermayer C. Collecting duct carcinoma: cytogenetic characterization. Histopathology 1992 21 : 155 160.
113. Kennedy SM, Merino MJ, Linehan WM, Roberts JR, Robertson CN, Neumann RD. Collecting duct carcinoma of the kidney. Hum. Pathol. 1990 21 : 449 456.
114. Schoenberg M, Cairns P, Brooks JD et al. Frequent loss of chromosome arms 8p and 13q in collecting duct carcinoma (CDC) of the kidney. Genes Chromosomes Cancer 1995 12 : 76 80.
115. Srigley JR, Eble JN. Collecting duct carcinoma of kidney. Semin. Diagn. Pathol. 1998 15 : 54 67.
116. Yang XJ, Zhou M, Hes O et al. Tubulocystic carcinoma of the kidney: clinicopathologic and molecular characterization. Am. J. Surg. Pathol. 2008 32 : 177 187.
117. Davis CJ Jr., Mostofi FK, Sesterhenn IA. Renal medullary carcinoma. The seventh sickle cell nephropathy. Am. J. Surg. Pathol. 1995 19 : 1 11.
118. Swartz MA, Karth J, Schneider DT, Rodriguez R, Beckwith JB, Perlman EJ. Renal medullary carcinoma: clinical, pathologic, immunohistochemical, and genetic analysis with pathogenetic implications. Urology 2002 60 : 1083 1089.
119. Wu A, Kunju LP, Cheng L, Shah RB. Renal cell carcinoma in children and young adults: analysis of clinicopathological, immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes. Histopathology 2008 53 : 533 544.
120. Tomlinson GE, Nisen PD, Timmons CF, Schneider NR. Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint. Cancer Genet. Cytogenet. 1991 57 : 11 17.
121. Rakozy C, Schmahl GE, Bogner S, Storkel S. Low-grade tubular-mucinous renal neoplasms: morphologic, immunohistochemical, and genetic features. Mod. Pathol. 2002 15 : 1162 1171.
122. Ferlicot S, Allory Y, Comperat E et al. Mucinous tubular and spindle cell carcinoma: a report of 15 cases and a review of the literature. Virchows Arch. 2005 447 : 978 983.
123. Brunelli M, Gobbo S, Cossu-Rocca P et al. Chromosomal gains in the sarcomatoid transformation of chromophobe renal cell carcinoma. Mod. Pathol. 2007 20 : 303 309.
124. Cheville JC, Lohse CM, Zincke H et al. Sarcomatoid renal cell carcinoma: an examination of underlying histologic subtype and an analysis of associations with patient outcome. Am. J. Surg. Pathol. 2004 28 : 435 441.
125. Dal Cin P, Sciot R, Van Poppel H, Balzarini P, Roskams T, Van den Berghe H. Chromosome changes in sarcomatoid renal carcinomas are different from those in renal cell carcinomas. Cancer Genet. Cytogenet. 2002 134 : 38 40.
126. de Peralta-Venturina M, Moch H, Amin M et al. Sarcomatoid differentiation in renal cell carcinoma: a study of 101 cases. Am. J. Surg. Pathol. 2001 25 : 275 284. (Pubitemid 32174196)
127. Turbiner J, Amin MB, Humphrey PA et al. Cystic nephroma and mixed epithelial and stromal tumor of kidney: a detailed clinicopathologic analysis of 34 cases and proposal for renal epithelial and stromal tumor (REST) as a unifying term. Am. J. Surg. Pathol. 2007 31 : 489 500.
128. Wang X, MacLennan GT, Zhang S et al. Sarcomatoid carcinoma of the upper urinary tract: clinical outcome and molecular characterization. Hum. Pathol. 2009 40 : 211 217.
129. Jones TD, Eble JN, Wang M et al. Clonal divergence and genetic heterogeneity in clear cell renal cell carcinomas with sarcomatoid transformation. Cancer 2005 104 : 1195.
130. Cossu-Rocca P, Eble JN, Zhang S, Martignoni G, Brunelli M, Cheng L. Acquired cystic disease-associated renal tumors: an immunohistochemical and fluorescence in situ hybridization study. Mod. Pathol. 2006 19 : 780 787.
131. Jung SJ, Chung JI, Park SH, Ayala AG, Ro JY. Thyroid follicular carcinoma-like tumor of kidney: a case report with morphologic, immunohistochemical, and genetic analysis. Am. J. Surg. Pathol. 2006 30 : 411 415.
132. Sterlacci W, Verdorfer I, Gabriel M, Mikuz G. Thyroid follicular carcinoma-like renal tumor: a case report with morphologic, immunophenotypic, cytogenetic, and scintigraphic studies. Virchows Arch. 2008 452 : 91 5.
133. Latif F, Duh FM, Gnarra J et al. von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region. Cancer Res. 1993 53 : 861 867.
134. Nickerson ML, Warren MB, Toro JR et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell. 2002 2 : 157 164.
135. 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 : 406 410.
136. 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 : 321 331.
137. Weirich G, Glenn G, Junker K et al. Familial renal oncocytoma: clinicopathological study of 5 families. J. Urol. 1998 160 : 335 340.
138. Woodward ER. Familial non-syndromic clear cell renal cell carcinoma. Curr. Mol. Med. 2004 4 : 843 848.
139. Zbar B, Glenn G, Lubensky I et al. Hereditary papillary renal cell carcinoma: clinical studies in 10 families. J. Urol. 1995 153 : 907 912.