Urinary System

  • Shirley V. Hodgson
  • William D. Foulkes
  • Charis Eng
  • Eamonn R. Maher


Cancers of the kidney account for approximately 1.5 % of all cancers and cancer deaths (with an incidence of 5–8 per 100,000 population in the UK and commoner in males). Three main types of renal cancer are distinguished: (1) Wilms tumor, (2) renal cell carcinoma (RCC) (adenocarcinoma), and (3) medullary and transitional cell cancers of the renal pelvis.


Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Papillary Renal Cell Carcinoma Cystic Nephroma Pleuropulmonary Blastoma 
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  1. Beckwith JB, Kiviat NB, Bonadio JF. Nephrogenic rests, nephroblastomatosis and the pathogenesis of Wilms tumor. Pediatr Pathol. 1990;10:1–36.PubMedCrossRefGoogle Scholar
  2. Breslow NE, Beckwith JB. Epidemiological features of Wilms’ tumor: results of the national Wilms’ tumor study. J Natl Cancer Inst. 1982;68:429–36.PubMedGoogle Scholar
  3. Breslow NE, Olson J, Moksness J, Beckwith JB, Grundy P. Familial Wilms’ tumor: a descriptive study. Med Pediatr Oncol. 1996;27:398–403.PubMedCrossRefGoogle Scholar
  4. Breslow NE, et al. Renal failure in the Denys-Drash and Wilms’ tumor-aniridia syndromes. Cancer Res. 2000;60(15):4030–2.PubMedGoogle Scholar
  5. Burkland CE, Juzek RH. Familial occurrence of carcinoma of the ureter. J Urol. 1966;96:697–701.PubMedGoogle Scholar
  6. Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med. 2009;11(3):220–2.PubMedCrossRefGoogle Scholar
  7. Clericuzio C, Hingorani M, Crolla JA, van Heyningen V, Verloes A. Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet. 2011;19(4).Google Scholar
  8. Cohen AJ, Li FP, Berg S, et al. Hereditary renal cell carcinoma associated with a chromosomal translocation. N Engl J Med. 1979;301:592–5.PubMedCrossRefGoogle Scholar
  9. Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR. Extending the phenotypes associated with DICER1 mutations. Hum Mutat. 2011;32:1381–4.PubMedCrossRefGoogle Scholar
  10. Fraumeni JF, Thomas LB. Malignant bladder tumors in a man and his three sons. J Am Med Assoc. 1967;201:507–9.CrossRefGoogle Scholar
  11. Golka K, Selinski S, Lehmann ML, Blaszkewicz M, Marchan R, Ickstadt K, Schwender H, Bolt HM, Hengstler JG. Genetic variants in urinary bladder cancer: collective power of the “wimp SNPs”. Arch Toxicol. 2011;85(6):539–54.PubMedCrossRefGoogle Scholar
  12. Gul D, et al. Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). Am J Med Genet. 2002;107(1):70–1.PubMedCrossRefGoogle Scholar
  13. Hartmann A, et al. Frequent microsatellite instability in sporadic tumors of the upper urinary tract. Cancer Res. 2002;62(23):6796–802.PubMedGoogle Scholar
  14. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wilkenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009;325:965.PubMedCrossRefGoogle Scholar
  15. Huff V, Amos CI, Douglass EG, et al. Evidence for genetic heterogeneity in familial Wilms’ tumor. Cancer Res. 1997;57:1859–62.PubMedGoogle Scholar
  16. Lim DH, Maher ER. Genomic imprinting syndromes and cancer. Adv Genet. 2010;70:145–75.PubMedCrossRefGoogle Scholar
  17. Lynch HT, Walzak MP, Fried R, et al. Familial factors in bladder cancer. J Urol. 1979;122:458–61.PubMedGoogle Scholar
  18. Maher ER. Genetics of familial renal cancers. Nephron Exp Nephrol. 2010;118(1):e21–6.PubMedCrossRefGoogle Scholar
  19. Maher ER, Yates JRW, Ferguson-Smith MA. Statistical analysis of the two stage mutation model in von Hippel–Lindau disease and in sporadic cerebellar haeman-gioblastoma and renal cell carcinoma. J Med Genet. 1990;27:311–4.PubMedCrossRefGoogle Scholar
  20. McCullough DL, Lamma DL, McLaughlin AP, et al. Familial transitional cell carcinoma of the bladder. J Urol. 1975;113:629–35.PubMedGoogle Scholar
  21. McLaughlin JK, Mandel JS, Blot WJ, Schuman LM, Mehl ES, Fraumeni JF. A population-based case–control study of renal cell carcinoma. J Natl Cancer Inst. 1984;72:275–84.PubMedGoogle Scholar
  22. Muto R, et al. Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients. Am J Med Genet. 2002;108(4):285–9.PubMedCrossRefGoogle Scholar
  23. Noguera-Irizarry WG, Hibshoosh H, Papadopoulos KP. Renal medullary carcinoma: case report and review of the literature. Am J Clin Oncol. 2003;26:489–92.PubMedCrossRefGoogle Scholar
  24. Pelletier J, Bruening W, Li FP, Haber DA, Glaser T, Housman DE. WT1 mutations contribute to abnormal genital system development and hereditary Wilms’ tumour. Nature. 1991;353:431–4.PubMedCrossRefGoogle Scholar
  25. Rahman N, Arbour L, Tonin P, et al. Evidence for a familial Wilms’ tumour gene (FWT1) on chromosome 17q12–q21. Nat Genet. 1996;13:461–3.PubMedCrossRefGoogle Scholar
  26. Rahman N, et al. Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phe-notypic characteristics of Wilms’ tumour attributable to FWT1. Hum Genet. 1998;103(5):547–56.PubMedCrossRefGoogle Scholar
  27. Rahman N, et al. Penetrance of mutations in the familial Wilms tumor gene FWT1. J Natl Cancer Inst. 2000;92(8):650–2.PubMedCrossRefGoogle Scholar
  28. Rapley EA, Crockford GP, Teare D, et al. Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet. 2000;24:197–200.PubMedCrossRefGoogle Scholar
  29. Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst. 2008;100(17):1260–2.PubMedCrossRefGoogle Scholar
  30. Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006a;43(9):705–15.PubMedCrossRefGoogle Scholar
  31. Scott RH, Walker L, Olsen ØE, Levitt G, Kenney I, Maher E, Owens CM, Pritchard-Jones K, Craft A, Rahman N. Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child. 2006b;91(12):995–9.PubMedCrossRefGoogle Scholar
  32. Steiner G, Schoenberg MP, Linn JF, Mao L, Sidransky D. Detection of bladder cancer recurrence by microsatellite analysis of urine. Nat Med. 1997;3:621–4.PubMedCrossRefGoogle Scholar
  33. Teh BT, McArdle J, Chan SP, et al. Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1. Medicine. 1997;76:21–9.PubMedCrossRefGoogle Scholar
  34. van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. J Med Genet. 2007;44:787–90.PubMedCrossRefGoogle Scholar
  35. Woodward ER, et al. Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. J Med Genet. 2000;37(5):348–53.PubMedCrossRefGoogle Scholar
  36. Woodward ER, Ricketts C, Killick P, Gad S, Morris MR, Kavalier F, Hodgson SV, Giraud S, Bressac-de Paillerets B, Chapman C, Escudier B, Latif F, Richard S, Maher ER. Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res. 2008;14(18):5925–30.PubMedCrossRefGoogle Scholar
  37. Woodward ER, Skytte AB, Cruger DG, Maher ER. Population-based survey of cancer risks in chromosome 3 translocation carriers. Genes Chromosomes Cancer. 2010;49(1):52–8.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London 2014

Authors and Affiliations

  • Shirley V. Hodgson
    • 1
  • William D. Foulkes
    • 2
  • Charis Eng
    • 3
  • Eamonn R. Maher
    • 4
  1. 1.Cancer GeneticsSt Georges HospitalLondonUK
  2. 2.Program in Cancer Genetics Department of Human Genetics, Medicine and OncologyMcGill UniversityMontrealCanada
  3. 3.Genomic Medicine Institute Cleveland ClinicClevelandUSA
  4. 4.Department of Medical GeneticsUniversity of CambridgeCambridgeUK

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