Wilms tumour and other childhood renal tumours

Genetic Predisposition to Cancer, Second Edition

Volumn , Issue , 2003, Pages 119-131

  Pritchard Jones, Kathryn ^a   Breslow, Norman ^b  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77954451232     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (116)

1. Stiller CA, Parkin DM. International variations in the incidence of childhood renal tumours. Br J Cancer 1990; 62:1026–1030.
2. Pritchard-Jones K. Molecular genetic pathways to Wilms tumour. Crit Rev Oncol 1997; 8:1–27.
3. Cardesa A, Ribalta T, Vonschilling B, et al. Experimental model of tumors associated with neurofibromatosis. Cancer 1989; 63: 1737–1749.
4. Beckwith JB, Kiviat NB, Bonadio JF. Nephrogenic rests, nephroblastomatosis and the pathogenesis of Wilms tumour. Pediatr Pathol 1990; 10:1–36.
5. Knudson AG, Strong LC. Mutation and cancer: a model for Wilms tumour of the kidney. J Natl Cancer Inst 1972; 48:313–324.
6. Goodrich DW, Lee WH. The molecular genetics of retinoblastoma. Cancer Surv 1990; 9:529–554.
7. Haber DA, Buckler AJ, Glaser T, et al. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms tumor. Cell 1990; 61:1257–1269.
8. Little MH, Prosser J, Condie A, et al. Zinc finger point mutations within the WT1 gene in Wilms tumor patients. Proc Natl Acad Sci USA 1992; 89:4791–4795.
9. Rahman N, Arbour L, Houlston R, et al. Penetrance of mutations in the familial Wilms tumor gene FWT1. J Natl Cancer Inst 2000; 92:650–652.
10. Bonaiti-Pellie C, Chompret A, Tournade MF, et al. Genetics and epidemiology of Wilms tumor: the French Wilms tumor study. Med Pediatr Oncol 1992; 20:284–291.
11. Hawkins MM, Winter D, Burton HS, Potok MHN. Heritability of Wilms tumor. J Natl Cancer Inst 1995; 87:1323–1324.
12. Byrne J, Mulvihill JJ, Connelly RR, et al. Reproductive problems and birth defects in survivors of Wilms tumor and their relatives. Med Pediatr Oncol 1988; 16:233–240.
13. Li FP, Gimbrere K, Gelber RD, et al. Outcome of pregnancy in survivors of Wilms tumor. JAMA 1987; 257:216–219.
14. Breslow N, Olshan A, Beckwith JB, Green DM. Epidemiology of Wilms tumor. Med Pediatr Oncol 1993; 21:172–181.
15. Bonaiti-Pellie C, Chompret A, Tournade MF, et al. Excess of multifocal tumors in nephroblastoma: implications for mechanisms of tumor development and genetic counseling. Hum Genet 1993; 91:373–376.
16. Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box-and homeoboxcontaining gene from the aniridia region. Cell 1991; 67:1059–1074.
17. Gessler M, Konig A, Moore J, et al. Homozygous inactivation of WT1 in a Wilms tumor associated with the WAGR syndrome. Genes Chromosomes Cancer 1993; 7:131–136.
18. Call KM, Glaser T, Ito CY, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell 1990; 60:509–520.
19. van Heyningen V, Bickmore WA, Seawright A, et al. Role for the Wilms tumor gene in genital development? Proc Natl Acad Sci USA 1990; 87:5383–5386.
20. Baird PN, Groves N, Haber DA, et al. Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. Oncogene 1992; 7:2141–2149.
21. Brown KW, Watson JE, Poirier V, et al. Inactivation of the remaining allele of the WT1 gene in a ‘Wilms tumour from a WAGR patient. Oncogene 1992; 7:763–768.
22. Parks S, Tomlinson G, Nisen P, Haber DA, et al. Altered transactivational properties of a mutated WT1 gene product in a WAGR-associated Wilms tumor. Cancer Res 1993; 53:4757–4760.
23. Santos A, Osorio-Almeida L, Baird PN, et al. Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome. Hum Genet 1993; 92:83–86.
24. Kent J, Lee M, Schedl A, et al. The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse. Genomics 1997; 42:260–267.
25. Armstrong JF, Pritchard-Jones K, Bickmore WA, et al. The expression of the Wilms tumour gene, WT1, in the developing mammalian embryo. Mech Dev 1993; 40:85–97.
26. Pritchard-Jones K, Fleming S, Davidson D, et al. The candidate Wilms tumour gene is involved in genitourinary development. Nature 1990; 346:194–197.
27. Wang ZY, Qiu QQ, Enger KT, et al. A second transcriptionally active DNA-binding site for the Wilms tumor gene product, WT1. Proc Natl Acad Sci USA 1993; 90:8896–8900.
28. Wang ZY, Qiu QQ, Deuel TF. The Wilms tumor gene product WT1 activates or suppresses transcription through separate functional domains. J Biol Chem 1993; 268: 9172–9175.
29. Kreidberg JA, Sariola H, Loring JM, et al. wt-1 is required for early kidney development. Cell 1993; 74:679–691.
30. Akasaka Y, Kikuchi H, Nagai T, et al. A point mutation found in the WT1 gene in a sporadic Wilms tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys–Drash syndrome. FEBS Lett 1993; 317:39–43.
31. Coppes MJ, Liefers GJ, Paul P, et al. Homozygous somatic WT1 point mutations in sporadic unilateral Wilms tumor. Proc Natl Acad Sci USA 1993; 90:1416–1419.
32. Huff V, Miwa H, Haber DA, et al. Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT. Am J Hum Genet 1991; 48:997–1003.
33. Tadokoro K, Fujii H, Ohshima A, et al. Intragenic homozygous deletion of the WT1 gene in Wilms tumor. Oncogene 1992; 7:1215–1221.
34. Cowell JK, Wadey RB, Haber DA, et al. Structural rearrangements of the WT1 gene in Wilms tumour cells. Oncogene 1991; 6:595–599.
35. Kikuchi H, Akasaka Y, Nagai T, et al. Genomic changes in the WT-gene (WT1) in Wilms tumors and their correlation with histology. Am J Pathol 1992; 140:781–786.
36. Radice P, Pilotti S, De Benedetti V, et al. Homozygous intragenic loss of the WT1 locus in a sporadic intralobar Wilms tumor [letter]. Int J Cancer 1993; 55:174–176.
37. Little M, Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 1997; 9:209–225.
38. Drash A, Sherman F, Hartmann, WH, Blizzard RM et al. A syndrome of pseudohermaphroditism, Wilms tumor, hypertension, and degenerative renal disease. J Pediatr 1970; 76:585–593.
39. Denys P, Malvaux P, Van Den Berghe H, et al. Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 1967; 24:729–739.
40. Jadresic L, Leake J, Gordon I, et al. Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr 1990; 117:717–725.
41. Pelletier J, Bruening W, Kashtan CE, et al. Germline mutations in the Wilms tumor suppressor gene are associated with abnormal urogenital development in Denys–Drash syndrome. Cell 1991; 67:437–447.
42. Little MH, Williamson KA, Mannens A, et al. Evidence that WT1 mutations in Denys–Drash syndrome patients may act in a dominant-negative fashion. Hum Mol Genet 1993; 2:259–264.
43. Hastie ND. Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys–Drash syndrome–proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet 1992; 1:293–295.
44. Klamt B, Koziell A, Poulat F, et al. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/-KTS splice isoforms. Hum Mol Genet 1998; 7:709–714.
45. Koziell A, Charmandari E, Hindmarsh PC, et al. Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? [see comments]. Clin Endocrinol (Oxf) 2000; 52:519–524.
46. Henry I, Hoovers J, Barichard F, et al. Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family. Genes Chromosomes Cancer 1993; 7:57–62.
47. Coppes MJ, Liefers GJ, Higuchi M, et al. Inherited WT1 mutation in Denys–Drash syndrome. Cancer Res 1992; 52:6125–6128.
48. Coppes MJ, Campbell CE, Williams BR. The role of WT1 in Wilms tumorigenesis. FASEB J 1993; 7:886–895.
49. Patek CE, Little MH, Fleming S, et al. A zinc finger truncation of murine wt1 results in the characteristic urogenital abnormalities of Denys–Drash syndrome. Proc Natl Acad Sci USA 1999; 96:2931–2936.
50. Pettenati MJ, Haines JL, Higgins RR. Wiedemann–Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986; 74:143–154.
51. Moutou C, Junien C, Henry I, Bonaiti-Pellie C, et al. Beckwith–Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females [see comments]. J Med Genet 1992; 29:217–220.
52. Catchpoole D, Lam WW, Valler D, et al. Epigenetic modification and uniparental inheritance of H19 in Beckwith–Wiedemann syndrome. J Med Genet 1997; 34:353–359.
53. Feinberg AP. Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res 1999; 59(7 Suppl):1743s–1746s.
54. Lam WW, Hatada I, Ohishi S, et al. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith–Wiedemann syndrome (BWS) provides a novel genotype–phenotype correlation. J Med Genet 1999; 36:518–523.
55. Lee MP, DeBaun MR, Misuyaka K, et al. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA 1999; 96:5203–5208.
56. Alders M, Ryan A, Hodges M, et al. Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith–Wiedemann syndrome. Am J Hum Genet 2000; 66:1473–1484.
57. O’Keefe D, Dao D, Zhao L, et al. Coding mutations in p57KIP2 are present in some cases of Beckwith–Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 1997; 61:295–303.
58. Ogawa O, Eccles MR, Szeto J, et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms tumour. Nature 1993; 362:749–751.
59. Caspary T, Cleary MA, Perlman EJ, et al. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith–Wiedemann syndrome. Genes Dev 1999; 13:3115–3124.
60. Weksberg R, Nishikawa J, Caluseriu O, et al. Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. J Hum Mol Genet 2001; 10:2989–3000.
61. Bliek J, Maas SM, Ruijter JM, et al. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10:467–476.
62. DeBaun MR, Niemitz EL, McNeil DE, et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith–Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70:604–611.
63. Hoyme HE, Seaver LH, Jones KL, et al. Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet 1998; 79:274–278.
64. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann–Beckwith syndrome. Eur J Paediatr 1983; 141:129.
65. Veugelers M, DeCat B, Delande M, et al. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson–Golabi–Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet 2000; 9:1321–1328.
66. White GR, Kelsey AM, Varley JM, et al. Mutations in Wilms tumour. Br J Cancer 2002; 86:1920–1922.
67. Hamel B, Mannens M, Bokkerink J. Perlman syndrome: a report of a case and results of molecular studies. Am J Hum Genet 1990; 45:A48.
68. Neri G, Martini-Neri ME, Katz BE, Opitz JM. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 1984; 19:195–207.
69. Greenberg F, Copeland K, Gresik MV. Expanding the spectrum of the Perlman syndrome. Am J Med Genet 1988; 29:773–776.
70. Perlman M, Levin M, Wittels B. Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms tumor. Cancer 1975; 35:1212–1217.
71. Grundy RG, Pritchard J, Baraitser M, et al. Perlman and Wiedemann–Beckwith syndromes: two distinct conditions associated with Wilms tumour. Eur J Pediatr 1992; 151:895–898.
72. Henneveld HT, Van Lingen RA, Hamel BC, et al. Perlman syndrome: four additional cases and review. Am J Med Genet 1999; 86:439–446.
73. Stay EJ, Vawter G. The relationship between nephroblastoma and neurofibromatosis (Von Recklinghausen disease). Cancer 1977; 39:2550–2555.
74. Blatt J, Jaffe R, Deutsch M, Adkins JC. Neurofibromatosis and childhood tumors. Cancer 1986; 57:1225–1229.
75. Perilongo G, Felix CA, Meadows AT, et al. Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report. Leukemia 1993; 7:912–915.
76. Hartley AL, Birch JM, Tricker K, et al. Wilms tumor in the Li–Fraumeni cancer family syndrome. Cancer Genet Cytogenet 1993; 67:133–135.
77. Varley JM, McGown G, Throncroft M, et al. A novel TP53 splicing mutation in a Li–Fraumeni syndrome family: a patient with Wilms tumour is not a mutation carrier. Br J Cancer 1998; 78:1081–1083.
78. Clericuzio CL. Clinical phenotypes and Wilms tumor. Med Pediatr Oncol 1993; 21:182–187.
79. Pastore G, Carli M, Lemerle J, et al. Epidemiological features of Wilms tumor: results of studies by the International Society of Paediatric Oncology (SIOP). Med Pediatr Oncol 1988; 16:7–11.
80. Breslow NE, Olson J, Moksness J, et al. Familial Wilms tumour: a descriptive study. Med Pediatr Oncol 1996; 27:398–403.
81. Matsunaga E. Genetics of Wilms tumor. Hum Genet 1981; 57:231–246.
82. Olson JM, Breslow NE, Barce J. Cancer in twins of Wilms tumor patients. Am J Med Genet 1993; 47:91–94.
83. Huff V, Compton DA, Chao LY, et al. Lack of linkage of familial tumour to chromosomal band 11p13. Nature 1988; 336:377–378.
84. Schwartz CE, Haber DA, Stanton VP, et al. Familial predisposition to Wilms tumor does not segregate with the WT1 gene. Genomics 1991; 10:927–930.
85. Huff V, Reeve AE, Leppert M, et al. Nonlinkage of 16q markers to familial predisposition to Wilms tumor. Cancer Res 1992; 52:6117–6120.
86. Pelletier J, Bruening W, Li FP, et al. WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumour. Nature 1991; 353:431–434.
87. Kaplinsky C, Ghahremani M, Frishberg Y, et al. Familial Wilms associated with a WT1 zinc finger mutation. Genomics 1996; 38:451–453.
88. Pritchard-Jones K, Rahman N, Gerrard M, et al. Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity [letter]. J Med Genet 2000; 37:377–379.
89. Rahman N, Arbour L, Tonin P, et al. Evidence for a familial Wilms tumour gene (FWT1) on chromosome 17q12–q21. Nature Genet 1996; 13:461–463.
90. Rahman N, Abidi F, Ford D, et al. Confirmation of FWT1 as a Wilms tumour susceptibility gene and phenotypic characteristics of Wilms tumour attributable to FWT1. Hum Genet 1998; 103:547–556.
91. Rapley EA, Barfoot R, Bonaiti-Pellie C, et al. Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. Br J Cancer 2000; 83:177–183.
92. Rahman N, Arbour L, Tonin P, et al. The familial Wilms tumour susceptibility gene, FWT1, may not be a tumour suppressor gene. Oncogene 1997; 14:3099–3102.
93. McDonald JM, Douglass EC, Fisher R, et al. Linkage of familial Wilms tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res 1998; 58:1387–1390.
94. DeBaun MR, Siegel MJ, Choyke PL. Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith–Wiedemann syndrome. J Pediatr 1998; 132:401–404.
95. Beckwith JB. Children at increased risk for Wilms tumor: monitoring issues [editorial; comment]. J Pediatr 1998; 132:377–379.
96. Coppes MJ, Arnold M, Beckwith JB, et al. Factors affecting the risk of contralateral Wilms tumor development: a report from the National Wilms Tumor Study Group. Cancer 1999; 85: 1616–1625.
97. Diller L, Ghahremani M, Morgan J, et al. Constitutional WT1 mutations in Wilms tumor patients. J Clin Oncol 1998; 16:3634–3640.
98. Green DM, Breslow NE, Beckwith JB, et al. Screening of children with hemihypertrophy, aniridia, and Beckwith–Wiedemann syndrome in patients with Wilms tumor: a report from the National Wilms Tumor Study. Med Pediatr Oncol 1993; 21:188–192.
99. Choyke PL, Siegel MJ, Craft AW, et al. Screening for Wilms tumor in children with Beckwith–Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 1999; 32:196–200.
100. Porteus MH, Narkool P, Neuberg D, et al. Characteristics and outcome of children with Beckwith–Wiedemann syndrome and Wilms tumor: a report from the National Wilms Tumor Study Group. J Clin Oncol 2000; 18:2026–2031.
101. Breslow NE, Takashima JR, Ritchey ML, et al. Renal failure in the Denys–Drash and Wilms tumor–aniridia syndromes. Cancer Res 2000; 60:4030–4032.
102. Austin MB, Fechner RE, Roggli VL. Pleural malignant mesothelioma following Wilms tumor. Am J Clin Pathol 1986; 86:227–230.
103. Park S, Schalling M, Bernard A, et al. The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma. Nature Genet 1993; 4:415–420.
104. Pritchard-Jones K, Renshaw J, King-Underwood L. The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient. Hum Mol Genet 1994; 3:1633–1637.
105. Weeks DA, Beckwith JB, Mieran GW, Luckey DW. Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms tumor Study Pathology Center. Am J Surg Pathol 1989; 13:439–458.
106. Versteege I, Sevenet N, Lange J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998; 394:203–206.
107. Savla J, Chen TT, Schneider NR, et al. Mutations of the SNF5/INI1 gene in renal rhabdoid tumors with second primary brain tumors. J Natl Cancer Inst 2000; 92:648–650.
108. Biegel JA, Zhou JY, Rorke LB, et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 1999; 59:74–79.
109. Taylor MD, Gokgoz N, Andrulis IL, et al. Familial posterior fossa brain tumors of infancy secondary to germline mutation of the SNF5 gene. Am J Hum Genet 2000; 66:1403–1406.
110. Knezevich SR, Garnett MJ, Pysher TJ, et al. ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res 1998; 58:5046–5048.
111. Argani P, Perlman EJ, Breslow NE, et al. Clear cell sarcoma of the kidney: a review of 351 cases from the National Wilms Tumor Study Group Pathology Center. Am J Surg Pathol 2000; 24:4–18.
112. Hartman DS, Davis CJ Jr, Madewell JE, et al. Primary malignant renal tumors in the second decade of life: Wilms tumor versus renal cell carcinoma. J Urol 1982; 127:888–891.
113. 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.
114. Schmidt L, Duh FM, Chen F, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET protooncogene in papillary renal carcinomas. Nature Genet 1997; 16:68–73.
115. 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.
116. Tazi K, Chretien Y, Droz D, et al. Renal cell carcinoma in a 14-year-old girl with Von Hippel Lindau disease. Ann Urol 1999; 33:414–417.