Advertisement

Wilms-Tumor

  • Brigitte Royer-Pokora
  • Valérie Schumacher
Part of the Molekulare Medizin book series (MOLMED)

Zusammenfassung

Wilms-Tumoren sind hochmaligne embryonale Mischgeschwulste der Nieren und gehören mit 7% zu den häufigsten soliden Tumoren des Kindesalters, die meist vor dem 5. Lebensjahr diagnostiziert werden. Sporadischer Wilms-Tumor tritt bei 1/10000 Lebendgeburten auf und ist meist unilateral. Ungefähr 1–2% der Patienten mit Wilms-Tumor haben betroffene Verwandte, dabei sind Geschwister und Kusinen am häufigsten betroffen.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Ashley DJB (1969) The two “hit” and multiple “hit” theories of carcinogenesis. Br J Cancer 23:313–328PubMedCrossRefGoogle Scholar
  2. Austin MB, Fechner RE, Roggli VI. (1986) Pleural malignant mesothelioma following Wilms' tumor. Am J Clin Pathol 86:227–230PubMedGoogle Scholar
  3. Avela K, Lipsanen-Nyman M, Perheentupa J et al. (1997) Assignment of the Mulibrey Nanism gene to 17q by linkage and link age-di s equilibrium analysis. Am J Med Genet 60:896–902Google Scholar
  4. Barbaux S, Niauder P, Gubler M-C et al. (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467–470PubMedCrossRefGoogle Scholar
  5. Barbosa AS, Hadjiafhanasiou CG, Theodoridis C et al. (1999) The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. Hum Mutat 13:146–153PubMedCrossRefGoogle Scholar
  6. Beckwith JB (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196Google Scholar
  7. Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study. Cancer 41:1837–1848CrossRefGoogle Scholar
  8. Beckwith JB, Kiviat NB, Bonadio JF (1990) Nephrogenic rests, nephroblastom atosi s, and the pathogenesis of Wilms' tumor. Pediatr Pathol 10:1–36PubMedCrossRefGoogle Scholar
  9. Bekanntmachung der Bundesärztekammer (1998) Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Arztebl 95:1396–1403Google Scholar
  10. Bishop JM (1987) The molecular genetics of cancer. Science 235:305–311PubMedCrossRefGoogle Scholar
  11. Bloom D (1966) The syndrome of congenital telangiectatic erythema and stunted growth. J Pediatr 68:103–113PubMedCrossRefGoogle Scholar
  12. Bove KE, McAdams AJ (1976) The nephroblastomatosis complex and its relationship to Wilms' tumor: a clinicopathologic treatise. Perspect Pediatr Pathol 3:185–223PubMedGoogle Scholar
  13. Brenner B, Wildhardt G, Schneider S, Royer-Pokora B (1992) RNA polymerase chain reaction delects different levels of four allernatively spliced WT1 transcripts in Wilms' tumors. Oncogene 7:1431–1433PubMedGoogle Scholar
  14. Brown KW, Gardner A, Williams JC, Moti MG, McDermott A, Maitland NJ (1992) Paternal origin of Up15 duplications in the Beckwith-Wiedemann syndrome. A new case and a review of the literature. Cancer Genet Cytogenet 58:66–70PubMedCrossRefGoogle Scholar
  15. Bruening W, Pelletier J (1996) A non-AUG translational initiation event generates novel WT1 isoforms. J Biol Chem 271:8646–8654PubMedCrossRefGoogle Scholar
  16. Cairney AE, Andrews M, Greenberg M, Smith D, Weksberg R (1987) Wilms tumor in three patients with Bloom syndrome. J Pediatr 111:414–416PubMedCrossRefGoogle Scholar
  17. Call K, Glaser TM, Ito CY et al. (1990) Isolation and characterization of a zinc finger polypeptide gene at human chromosome 11 Wilms' tumor locus. Cell 60:509–520PubMedCrossRefGoogle Scholar
  18. Cavenee WK, Dryja TP, Phillips RA et al. (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779–784PubMedCrossRefGoogle Scholar
  19. Cedar H (1988) DNA methylation and gene activity. Cell 53:3–4PubMedCrossRefGoogle Scholar
  20. Choyke PL, Siegel MJ, Craft AW, Green DM, DeBaun MR (1999) Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol 32:196–200PubMedCrossRefGoogle Scholar
  21. Clericuzio CL (1999) Recognition and management of childhood cancer syndromes. Am J Med Genet 89:81–90PubMedCrossRefGoogle Scholar
  22. Compton DA, Weil MM, Jones C, Riccardi VM, Strong LC, Saunders GF (1988) Long range physical map of the Wilms' turn or-aniridia region on human chromosome 11. Cell 55:827–836PubMedCrossRefGoogle Scholar
  23. Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BRG (1992) Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 52:6125–6128PubMedGoogle Scholar
  24. D'Angio GJ, Breslow N, Beckwith JB et al. (1989) Treatment of Wilms' tumor. Results of the third National Wilms' Tumor Study. Cancer 64:349–360PubMedCrossRefGoogle Scholar
  25. DeBustros A, Nelkin BD, Silverman A, Ehrlich G, Poiesz B, Baylin SB (1988) The short arm of chromosome 11 is a “hot spot” for hypermethylation in human neoplasia. Proc Natl Acad Sci USA 85:5693–5697CrossRefGoogle Scholar
  26. Delemarre JFM, Sandstedt B, Gerard Marchanl R, Tournade MF (1982) SIOP nephroblastoma trials and studies, morphological aspects. In: Raybaud C, Clement R, Lebreuil G, Bernard JL (eds) Pediatrie oncology. Excerpta medica, Amsterdam Oxford Princeton, pp 261–272Google Scholar
  27. Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K (1999) Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46, XX female. J Am Soc Nephrol 10:2215–2218PubMedGoogle Scholar
  28. Denys P, Malvaux P, Van den Berghe H, Tanghe W, Proesmans W (1967) Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 24:729–739PubMedGoogle Scholar
  29. Diller L, Ghahremani M, Morgan J et al. (1998) Constitutional WT1 mutations in Wilms' tumor patients. J Clin Oncol 16:3634–3640PubMedGoogle Scholar
  30. Doerfler W (1983) DNA methylation and gene activity Annu Rev Biochem 52:93–124PubMedCrossRefGoogle Scholar
  31. Drash A, Sherman F, Hartmann WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease. J Pediatr 76:585–593PubMedCrossRefGoogle Scholar
  32. Drechsler M, Meijers-Heijboer EJ, Schneider S et al. (1994) Molecular analysis of aniridia patients for deletions in-volving the Wilms' tumor gene. Hum Genet 94:331–338PubMedCrossRefGoogle Scholar
  33. Fantes JA, Bickmore WA, Fletcher TM, Ballesta F, Hanson IM, Heyningen V van (1992) Sub microscopic deletions at the WAGR locus, revealed by nonradioactive in situ hy-bridisation. Am J Hum Genet 51:1286–1294PubMedGoogle Scholar
  34. Faucette K, Carey J, Lemons R, Toledano S (1991) Trisomy 18 and Wilms tumor: is there an association? Clin Res 39:96 AGoogle Scholar
  35. Fearon ER, Vogelstein B (1990) A genetic model for colorec-tal turnorigenesis. Cell 61:759–767PubMedCrossRefGoogle Scholar
  36. Fearon ER, Cho KR, Nigro JM et al. (1990) Identification of a chromosome 18q gene is altered in colorectal cancers. Science 247:49–56PubMedCrossRefGoogle Scholar
  37. Ferguson-Smith AC, Reik W, Surani MA (1990) Genomic imprinting and cancer. Cancer Surv 9:487–503PubMedGoogle Scholar
  38. Foulds L (1958) The natural history of cancer. J Chronic Dis 8:2–37PubMedCrossRefGoogle Scholar
  39. Francke U, Holmes LB, Atkins L, Riccardi VM (1979) Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 24:185–192PubMedCrossRefGoogle Scholar
  40. Fraumeni JF, Glass AG (1968) Wilms' tumor and congenital aniridia. J Am Med Assoc 206:825–828CrossRefGoogle Scholar
  41. Frebourg T, Friend SH (1992) Cancer risks from germline p53 mutations. J Clin Invest 90:1637–1641PubMedCrossRefGoogle Scholar
  42. Friedman JM (1997) Genetics and epidemiology, congenital anomalies and cancer. Am J Hum Genet 60:469–473PubMedGoogle Scholar
  43. Friend SH, Bernards R, Rogelj S et al. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323:643–646PubMedCrossRefGoogle Scholar
  44. Geiser CF, Schindler AM (1969) Long survival in a male with 18-trisomy syndrome and Wilms tumor. Pediatrics 44:111–116PubMedGoogle Scholar
  45. German J (1969) Bloom’s syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 21:196–227PubMedGoogle Scholar
  46. Gessler M, Bruns GAP (1989) A physical map around the WAGR complex on the short arm of chromosome 11. Genomics 5:43–55PubMedCrossRefGoogle Scholar
  47. Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GAP (1990) Homozygous deletion in Wilms' tumours of a zinc finger gene identified by chromosome jumping. Nature 343:774–778PubMedCrossRefGoogle Scholar
  48. Greenberg F, Stein F, Gresik MV et al. (1986) The Perlman familial nephro bias tornatosis syndrome. Am J Med Genet 24:101–110PubMedCrossRefGoogle Scholar
  49. Greger V, Passarge E, Hopping W, Messmer E, Horsthemke B (1989) Epigenic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet 83:155–158PubMedCrossRefGoogle Scholar
  50. Grundy P, Koufos A, Morgan K, Li FP, Meadows AT, Cavenee WK (1988) Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11. Nature 336:374–376PubMedCrossRefGoogle Scholar
  51. Grundy P, Breslow N, Green DM, Sharpies K, Evans A, D'Angio GJ (1989) Prognostic factors for children with recurrent Wilms' tumor: results from the second and third National Wilms' Tumor Study. J Clin Oncol 7:638–647PubMedGoogle Scholar
  52. Grundy RG, Kempski HM, Pritchard J, Cowell JK (1994) A molecular genetic study of Perlman syndrome — another piece of the “Wilms' jigsaw”. SIOP, Ninth Schweisguth Prize Winning PaperGoogle Scholar
  53. Haber DA, Sohn RL, Buckler AJ, Pelletier J, Call KM, Housman DE (1991) Alternative splicing and genomic structure of the Wilms' tumor gene WT1 Proc Nad Acad Sci USA 88:9618–9622CrossRefGoogle Scholar
  54. Habib R, Loirat C, Gubler MC (1985) The nephropathy associated with male pseudohermaphroditism and Wilms' tumour (Drash syndrome): a distinctive glomerular lesion-report of 10 cases. Clin Nephrol 24:269–278PubMedGoogle Scholar
  55. Hao Y, Crenshaw T, Moulton T, Newcomb E, Tycko B (1993) Tumoursuppressor activity of H19 RNA. Nature 365:764–767PubMedCrossRefGoogle Scholar
  56. Hartley AL, Birch JM, Tricker K et al. (1993) Wilms tumor in the Li-Fraumeni cancer family syndrome. Cancer Genet Cytogenet 67:133–135PubMedCrossRefGoogle Scholar
  57. Hartley AL, Birch JM, Harris M et al. (1994) Leukemia, lymphoma, and related disorders in families of children diagnosed with Wilms' tumor. Cancer Genet Cytogenet 77:129–133PubMedCrossRefGoogle Scholar
  58. Hatada I, Ohashi H, Fukushima Y et al. (1996) An imprinted gene p57(KIP2) is mutated in Beckwith-Wiedemann syndrome. Nat Genet 14:171–173PubMedCrossRefGoogle Scholar
  59. Hawkins M, Draper G, Kingston J (1987) Incidence of second primary tumours among childhood cancer survivors. Br J Cancer 56:339–347PubMedCrossRefGoogle Scholar
  60. Henneveld HT, hingen RA van, Hamel BC, Stolte-Dijkstra I, Essen AJ van (1999) Perlman syndrome: four additional cases and review. Am J Med Genet 86:439–446PubMedCrossRefGoogle Scholar
  61. Hoffman M (1991) How parents make their mark on genes. Science 252:1250–1251PubMedCrossRefGoogle Scholar
  62. Hofmann W, Royer HD, Drechsler M, Schneider S, Royer-Pokora B (1993) Characterization of the transcriptional regulatory region of the human WT1 gene. Oncogene 8:3123–3132PubMedGoogle Scholar
  63. Hoovers JMN, Kalikin LM, Johnson LA et al. (1995) Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 92:12456–12460PubMedCrossRefGoogle Scholar
  64. Huff V, Compton DA, Chao L-Y, Strong LC, Geiser CF, Saunders GF (1988) Lack of linkage of familial Wilms' tumour to chromosomal band 11p13. Nature 336:377–378PubMedCrossRefGoogle Scholar
  65. Huff V, Reeve AE, Leppert M et al. (1992) Nonlinkage of 16q markers to familial predisposition to Wilms' tumor. Cancer Res 52:6117–6120PubMedGoogle Scholar
  66. Hughes-Benzie RM, Hunter AGW, Allanson JE, MacKenzie AE (1992) Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumour: linkage to Xq21>qcent. Am J Med Genet 43:428–435PubMedCrossRefGoogle Scholar
  67. Hunger SP, Sklar J, Link MP (1992) Acute lymphoblastic leukemia occurring as a second malignant neoplasm in childhood: report of three cases and review of the literature, J Clin Oncol 10:156–163PubMedGoogle Scholar
  68. Inoue H, Miki H, Oshimo K et al. (1995) Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. Clin Endocrinol (Oxf) 43:225–229CrossRefGoogle Scholar
  69. Jadresic L, Leake J, Gordon I et al. (1990) Clinicopathologic review of twelve children with nephropathy, Wilms' tumor and genital abnormalities (Drash syndrome), J Pediatr 117:717–725PubMedCrossRefGoogle Scholar
  70. Jeanpierre C, Denamur E, Henry I et al. (1998a) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824–833PubMedCrossRefGoogle Scholar
  71. Jeanpierre C, Beroud C, Niaudet P, Junien C (1998b) Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 26:271–274PubMedCrossRefGoogle Scholar
  72. Kakinuma A, Morimoto I, Nakano Y et al. (1994) Familial primary hyperparathyroidism complicated with Wilms' tumor. Intern Med 33:123–126PubMedCrossRefGoogle Scholar
  73. Kaplinsky C, Ghahremani M, Frishberg Y, Rechavi G, Pelletier J (1996) Familial Wilms tumor associated with a WT1 zinc finger mutation. Genomics 38:451–453PubMedCrossRefGoogle Scholar
  74. Karayalcin G, Shanske A, Honigman R (1981) Wilms' tumor in a 13-year old girl with trisomy 18. Am J Dis Child 135:665–666PubMedGoogle Scholar
  75. Kennedy D, Ramsdale T, Mattkk J, Littel M (1996) An RNA recognition motif in Wilms' tumour protein (WT1) revealed by structural modelling. Nat Genet 12:329–332PubMedCrossRefGoogle Scholar
  76. Klamt B, Koziell A, Poulat F et al. (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 7:709–714PubMedCrossRefGoogle Scholar
  77. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823PubMedCrossRefGoogle Scholar
  78. Knudson AG, Strong LC (1972) Mutation and cancer; a model for Wilms' tumor of the kidney, J Natl Cane Inst 48:313–324Google Scholar
  79. Koufos A, Grundy P, Morgan K et al. (1989) Familial Wiedemann-Beckwith syndrome and a second Wilms' tumor locus map to 11p15.5. Am J Hum Genet 44:711–719PubMedGoogle Scholar
  80. Kreidberg JA, Sarlola H, Loring JM et al. (1993) WT-1 is required for early kidney development. Cell 74:679–691PubMedCrossRefGoogle Scholar
  81. Lam WWK, Hatada I, Ohishi S et al. (1999) Analysis of germline CDKN1 C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 36:518–523PubMedGoogle Scholar
  82. Lapunzina P, Rodriguez JI, Matteo E de, Garcia R, Moreno F (1995) Mulibrey nanism: three additional patients and a review of 39 patients. Am J Med Genet 55:349–355PubMedCrossRefGoogle Scholar
  83. Larsson SH, Charlieu J-P, Miyagawa K et al. (1995) Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81:391–401PubMedCrossRefGoogle Scholar
  84. Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP (1997) Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 61:304–309PubMedCrossRefGoogle Scholar
  85. Li FP, Williams WR, Gimbrere K, Flamant F, Green DM, Meadows AT (1988) Heritablefraction of unilateral Wilms tumor. Pediatrics 81:147–149PubMedGoogle Scholar
  86. Li M, Squire J, Weksberg R (1998) Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 79:253–259PubMedCrossRefGoogle Scholar
  87. Little M, Wells C (1997) A clinical overview of WT1 gene mutations. Hum Mutat 9:209–225PubMedCrossRefGoogle Scholar
  88. Ludwig R, Weirich A, Pötter R et al. (1992) Präoperative Chemotherapie des Nephroblastoms: vorläufige Ergebnisse der Therapiestudie SIOP-9/GPO. Klin Pädiatr 204:204–213PubMedCrossRefGoogle Scholar
  89. Ludwig R, Weirich A, Bürger D et al. (1997) Durchführung eines neuen Therapiekonzepts für Nephroblastome im Bereich der Gesellschaft für Pädiatrische Onkologie und Hämatologie SIOP9/GPOH. Monatsschr Kinderheilkd 145:128–135CrossRefGoogle Scholar
  90. Madden SL, Cook DM, Morris JF, Gashler A, Sukhatme VP, Rauscher IIIFJ (1991) Transcriptional repression mediated by the WT1 Wilms'tumor gene product. Science 253:1550–1553PubMedCrossRefGoogle Scholar
  91. Mannens M, Slater RM, Heyting C et al. (1988) Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumor. Hum Genet 81:41–48PubMedCrossRefGoogle Scholar
  92. Mannens M, Alders M, Redeker B et al. (1996) Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 27:490–494PubMedCrossRefGoogle Scholar
  93. Marx JL (1988) A parent’s sex may affect gene expression. Science 239:352–353PubMedCrossRefGoogle Scholar
  94. Matsunaga E (1981) Genetics of Wilms' tumor. Hum Genet 57:231–246PubMedCrossRefGoogle Scholar
  95. Maw MA, Grundy PE, MiLlow IT et al. (1992) A third Wilms' tumor locus on chromosome 16q. Cancer Res 52:3094–3098PubMedGoogle Scholar
  96. McDonald JM, Douglass EC, Fisher R et al. (1998) Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res 58:1387–1390PubMedGoogle Scholar
  97. Menke A, Mclnnes L, Hastie N, Schedi A (1998) The Wilms tumor suppressor WT1: approaches to gene function. Kidney Int 53:1512–1518PubMedCrossRefGoogle Scholar
  98. Mierau GW, Beckwith JB, Weeks DA (1987) Ultrastructure and histogenesis of the renal tumors of childhood: an overview. Ultrastruct Pathol 11:313–333PubMedCrossRefGoogle Scholar
  99. Miller RW, Fraumeni JF, Manning MD (1964) Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 271:703–707CrossRefGoogle Scholar
  100. Monk M (1987) Memories of mother and father. Nature 328:203–204PubMedCrossRefGoogle Scholar
  101. Mundlos S, Pelletier J, Darveau A, Bachmann M, Winterpracht A, Zabel B (1993) Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues. Development 119:1329–1341PubMedGoogle Scholar
  102. Narod S, Hawkins MM, Robertson CM, Stiller CA (1997) Congenital anomalies and childhood cancer in Great Britain. Am J Hum Genet 60:474–485PubMedGoogle Scholar
  103. National Wilms' Tumor Study Committee (1991) Wilms' tumor: status report, 1990. J Clin Oncol 5:877–887Google Scholar
  104. Neyroud N, Tesson F, Denjoy I et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Länge-Nielsen cardio audi tory syndrome. Nat Genet 15:186–189PubMedCrossRefGoogle Scholar
  105. O'Keefe D, Dao D, Zhao L et al. (1997) Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumours. Am J Hum Genet 61:295–303PubMedCrossRefGoogle Scholar
  106. Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11:213–215PubMedCrossRefGoogle Scholar
  107. Paavola P, Avela K, Horelli-Kuitunen N et al. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. Genome Res 9:267–276PubMedGoogle Scholar
  108. Pelletier J, Bruening W, Kashtan CE et al. (1991a) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437–447PubMedCrossRefGoogle Scholar
  109. Pelletier J, Bruening W, Li FP, Haber DA, Glaser T, Housman DE (1991b) WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 353:431–434PubMedCrossRefGoogle Scholar
  110. Pelletier J, Schalling M, Buckler AT, Rogers A, Haber DA, Housman D (1991c) Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev 5:1345–1356PubMedCrossRefGoogle Scholar
  111. Pendergrass TW (1976) Congenital anomalies in children with Wilms' tumor: a new survey. Cancer 37:403–409PubMedCrossRefGoogle Scholar
  112. Perheentupa J, Autio S, Leisti S, Raitta C (1970) Mulibrey nanism: dwarfism with muscle, liver, brain and eye involvement. Acta Paediatr Scand 59:74–75CrossRefGoogle Scholar
  113. Perheentupa T, Autio S, Leisti S, Raitta C, Tuuteri I. (1973) Mulibrey-nanism, an autosomal recessive syndrome with pericardial constriction. Lancet 2:351–355PubMedCrossRefGoogle Scholar
  114. Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G (1973) Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. J Pediatr 83:414–418PubMedCrossRefGoogle Scholar
  115. Pilia G, Hughes-Benzie RM, MacKenzie A et al. (1996) Muta-tions in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12:241–247PubMedCrossRefGoogle Scholar
  116. Ping AJ, Reeve AE, Law DI, Young MR, Boehnke M, Feinberg AP (1989) Genetic linkage of Beckwith-Wiedemann syn-drome to 11p15. Am J Hum Cenet 44:720–723Google Scholar
  117. Pritchard-fones K (1997) Molecular genetic pathways to Wilms tumor. Crit Rev Oncogen 8:1–27CrossRefGoogle Scholar
  118. Pritchard-fones K, Hastie ND (1990) Wilms tumour as a paradigm for the relationship of cancer to development. Cancer Surv 9:555–578Google Scholar
  119. Pritchard-Jones K, Fleming S (1991) Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumours: implications for tumour histogenesis. Oncogene 6:2211–2220PubMedGoogle Scholar
  120. Pritchard-Iones K, Fleming S, Davidson D et al. (1990) The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346:194–197CrossRefGoogle Scholar
  121. Prilchard-Jones K, Renshaw T, Kind-Underwood L (1994) The Wilms' tumor (WT1) gene is mutated in a secondary leukemia in a WAGR patient. Hum Mol Genet 3:1633–1637CrossRefGoogle Scholar
  122. Rahman N, Arbour L, Tonin P et al. (1996) Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nat Genet 13:461–463PubMedCrossRefGoogle Scholar
  123. Rahman N, Arbour L, Tonin P et al. (1997) The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene. Oncogene 14:3099–3102PubMedCrossRefGoogle Scholar
  124. Rahman N, Abidi F, Ford D et al. (1998) Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1 Hum Genet 103:547–556PubMedCrossRefGoogle Scholar
  125. Rauscher FJ, Morris IF, Tournay OE, Cook DM, Curran T (1990) Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 250:1259–1262PubMedCrossRefGoogle Scholar
  126. Razin A, Riggs AD (1980) DNA methylation and gene function. Science 210:604–610PubMedCrossRefGoogle Scholar
  127. Reik W (1989) Genomic imprinting and genetic disorders in man. TIG 5:331–336PubMedCrossRefGoogle Scholar
  128. Reik W, Surani MA (1989) Genomic imprinting and embryonal tumours. Nature 338:112–113PubMedCrossRefGoogle Scholar
  129. Reik W, Collick A, Norris ML, Barton SC, Surani MA (1987) Genomic imprinting determines methylation of parental alleles in transgenic mice. Nature 328:248–251PubMedCrossRefGoogle Scholar
  130. Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilms' tumor association: lip interstitial deletion. Pediatrics 61:604–610PubMedGoogle Scholar
  131. Royer-Pokora B, Ragg S, Heckl-Östreicher B et al. (1991) Direct pulsed field gel electrophoresis of Wilms' tumors shows that DNA deletions in 11p13 are rare. Genes Chromosomes Cancer 3:89–100PubMedCrossRefGoogle Scholar
  132. Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP (1991) Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet 48:880–888PubMedGoogle Scholar
  133. Sapienza C (1991) Genome imprinting and carcinogenesis. Biochim Biophys Acta 1072:51–61PubMedGoogle Scholar
  134. Schmidt D, Harms D (1982) Histologie und Prognose der Nephroblastome. Einfache Klassifizierung unter Berücksichtigung der Son der Varianten. Verh Dtsch Ges Pathol 66:579Google Scholar
  135. Schmidt D, Harms D (1983) Histologie und Prognose der Nephroblastome unter Berücksichtigung der Sondervarianten. Klin Padiatr 195:214–221PubMedCrossRefGoogle Scholar
  136. Schroeder WT, Chao LY, Dao DD et al. (1987) Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors. Am J Hum Genet 40:413–420PubMedGoogle Scholar
  137. Schumacher V, Schneider S, Figge A et al. (1997) Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predo min ant histology. Proc Natl Acad Sci USA 94:3972–3977PubMedCrossRefGoogle Scholar
  138. Schumacher V, Schärer K, Wühl E et al. (1998) Spectrum of early onset nephroticsyndrome associated with WT1 missense mutations. Kidney Int 53:1594–1600PubMedCrossRefGoogle Scholar
  139. Schwartz CE, Haber DE, Stanton VP, Strong LC, Skolnick MH, Housman DE (1991) Familial predisposition to Wilms' tumor does not segregate with the WT1 gene. Genomics 10:927–930PubMedCrossRefGoogle Scholar
  140. Scrable H, Cavenee W, Ghavimi F, Lovell M, Morgan K, Sapienza C (1989) A model for embryonal rhabdomyosarcoma turnorigenesis that involves genome imprinting. Proc Natl Acad Sci USA 86:7480–7484PubMedCrossRefGoogle Scholar
  141. Seemanová E, Bartsch O (1999) Mulibrey nanism and Wilms tumor. Am J Med Genet 85:76–78PubMedCrossRefGoogle Scholar
  142. Sharma PM, Bowman M, Madden SL, Rauscher FJ, Sukumar S (1994) RNA editing in the Wilms' tumor susceptibility gene, WT1. Genes Dev 8:720–731PubMedCrossRefGoogle Scholar
  143. Simila S, Timonen M, Heikkinen E (1980) A case of Mulibrey nanism with associated Wilms' tumor. Clin Genet 17:29–30PubMedCrossRefGoogle Scholar
  144. Steenman M, Westerveld A, Mannens M (2000) Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. Genes Chromosomes Cancer 28:1–13PubMedCrossRefGoogle Scholar
  145. Stiller CA, Lennox EL, Wilson LM (1987) Incidence of cardiac septal defects in children with Wilms' tumour and other malignant diseases. Carcinogenesis 8:129–132PubMedCrossRefGoogle Scholar
  146. Sukhatme VP, Cao X, Chang LC et al. (1988) A zinc finger encoding gene coregulated with c-fos during growth and differentiation and after cellular depolarization. Cell 53:37–43PubMedCrossRefGoogle Scholar
  147. Ton CCT, Hirvonen H, Miwa H et al. (1991) Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell 67:1059–1074PubMedCrossRefGoogle Scholar
  148. Van Heyningen V, Bickmore WA, Seawright A et al. (1990) Role for the Wilms' tumor gene in genital development? Proc Natl Acad Sci USA 87:5383–5386PubMedCrossRefGoogle Scholar
  149. Versteege I, Sévenet N, Lange J et al. (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206PubMedCrossRefGoogle Scholar
  150. Vogel F (1957) Neue Untersuchungen zur Genetik des Retinoblastoms (glioma retinae). Z Menschl Vererbung Konstitutionslehre 34:205–236Google Scholar
  151. Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54PubMedCrossRefGoogle Scholar
  152. Wang Q, Curran ME, Splawski I et al. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17–23PubMedCrossRefGoogle Scholar
  153. Waziri M, Patii S, Hanson J, Barlley SA (1983) Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 102:873–876PubMedCrossRefGoogle Scholar
  154. Weinberg RA (1989) Oncogenes, antioncogene s, and the molecular bases of m ulti stepcarcinogenesis. Cancer Res 15:3713–3721Google Scholar
  155. Weirich A, Schmidt D, Harms D, Ludwig R (1994) Distribution of subtypes in standard Wilms' tumour after pre-operative chemotherapy and its possible influence on the patients cure rate. Med and Ped Oncol 23:217 (P-114)Google Scholar
  156. Weksberg R, Teshima I, Williams BRG et al. (1993) Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet 2:549–556PubMedCrossRefGoogle Scholar
  157. Wiedemann HR (1964) Complexe malformatif familial avec hernie ombilicale et macroglossie. Un „Syndrome nouveaur“. J Genet Hum 13:223–232PubMedGoogle Scholar
  158. Wiedemann HR (1983) Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 141:129–132CrossRefGoogle Scholar
  159. Wilkins Rf (1988) Genomic imprinting and carcinogenesis. Lancet 1:329–331PubMedCrossRefGoogle Scholar
  160. Williams JC, Brown KW, Mott MG, Maitland NJ (1989) Maternal allel loss in Wilms' tumour. Lancet 1:283–284PubMedCrossRefGoogle Scholar
  161. Wilms M (1899) Die Mischgeschwülste der Niere. Arthur Georgi, Leipzig, S 1–90Google Scholar
  162. Xuan JY, Hughes-Benzie RM, MacKenzie AE (1999) A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. J Med Genet 36:57–58PubMedGoogle Scholar
  163. Zhang Y, Tycko B (1992) Monoallelic expression of the human H19 gene. Nat Genet 1:40–44PubMedCrossRefGoogle Scholar
  164. Zhang P, Liégeois NJ, Wong C et al. (1997) Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 387:151–158PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • Brigitte Royer-Pokora
    • 1
  • Valérie Schumacher
    • 1
  1. 1.Heinrich-Heine-Universität Medizinische EinrichtungenInstitut für Humangenetik und AnthropologieDüsseldorf

Personalised recommendations