Beckwith-Wiedemann Syndrome, Tumorigenesis and Imprinting

  • C. Junien
Conference paper


The Beckwith-Wiedemann syndrome (BWS) occurs with an incidence of 1 in 13 700 live births and is characterized by numerous growth abnormalities, including exomphalos, macroglossia, visceromegaly and gigantism. These features show variable expression and can be found in association with multiple abnormalities including neonatal hypoglycemia, ear lobe creases and pits, and hemihypertrophy. The clinical findings in BWS patients are highly variable, tending to become less distinctive with age. The syndrome may therefore be underdiagnosed in adults. An increased incidence (7.5%) of different types of childhood tumors is observed, including the following tumors: Wilms’ tumor (59%), adrenocortical carcinoma (15%) and a few instances of hepatoblastoma, rhabdomyosarcoma and neuroblastoma (Wiedemann 1983). Hemihypertrophy, nephrogenic rest, Wilms’ tumor and BWS commonly occur together.


Adrenocortical Carcinoma Paternal Allele Maternal Allele Neonatal Hypoglycemia Embryonal Rhabdomyosarcoma 
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  1. Bartolomei MS, Zemel S, Tilghman S (1991) Parental imprinting of the mouse H19 gene. Nature 351: 153–155PubMedCrossRefGoogle Scholar
  2. Cavenee WK, Dryja P, Phillips et al. (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305: 779–784PubMedCrossRefGoogle Scholar
  3. DeChiara TM, Robertson EJ, Efstratiadias A (1991) Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64: 849–859PubMedCrossRefGoogle Scholar
  4. Fearon ER, Feinberg AP, Hamilton SH et al. (1985) Loss of genes on the short arm of chromosome 11 in bladder cancer. Nature 381: 377–380CrossRefGoogle Scholar
  5. Ferguson-Smith AC, Cattanach BM, Barton SC et al. (1991) Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351: 667–670PubMedCrossRefGoogle Scholar
  6. Francke U, Holmes LB, Atkins L et al. (1979) Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 24: 185–192PubMedCrossRefGoogle Scholar
  7. Grundy P, Koufos A, Morgan K et al. (1988) Familial predisposition to Wilms’ tumor does not map to the short arm of chromosome 11. Nature 336: 374–376PubMedCrossRefGoogle Scholar
  8. Grundy P, Telzerw P, Peterson MC, Haber D, Herman B, Li F, Garber L (1991) Chromosome 11 uniparental isodisomy predisposition to embryonal neoplasms. Lancet 338: 1079–1080PubMedCrossRefGoogle Scholar
  9. Henry I, Grandjouan S, Couillin P et al. (1989) Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms’ tumor and in familial adrenocortical carcinoma. Proc Natl Acad Sci USA 86: 3247–3251PubMedCrossRefGoogle Scholar
  10. Henry I, Bonaïti-Pellié C, Chehensse V et al. (1991) Uniparental paternal disomy in sporadic Beckwith-Wiedemann syndrome with Wilms’ tumor suggests genomic imprinting. Nature 351: 665–667PubMedCrossRefGoogle Scholar
  11. Huff V, Compton DA, Chao LY et al. (1988) Lack of linkage of familial Wilms’ tumor to chromosomol band 11p13. Nature 336: 377–378PubMedCrossRefGoogle Scholar
  12. Junien C (1986) Les antioncogènes. Médecine/Science 2: 238–254Google Scholar
  13. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 4: 820–823CrossRefGoogle Scholar
  14. Koufos A, Hansen MF, Lampkin BC et al. (1984) Loss of alleles at loci on human chromosome 11 during genesis of Wilms’ tumor. Nature 309: 170–172PubMedCrossRefGoogle Scholar
  15. Koufos A, Grundy P, Morgan K et al. (1989) Familial Wiedemann-Beckwith syndrome and a second Wilms’ tumor locus both map to 11p15.5. Am J Hum Genet 44: 711–719PubMedGoogle Scholar
  16. Lothe RA, Fossa SD, Stenwig AE (1989) Loss of 3p or I 1p alleles is associated with testicular cancer tumors. Genomics 5: 134–138PubMedCrossRefGoogle Scholar
  17. 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
  18. Moutou C, Junien C, Henry I et al. (1992) A demonstration of the mechanisms responsible for the excess of transmitting females. J Med Genet (in press)Google Scholar
  19. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67: 437–447PubMedCrossRefGoogle Scholar
  20. Scrable HJ, Witte DP, Lampkin BC et al. (1987) Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature 329: 645–647PubMedCrossRefGoogle Scholar
  21. Scrable HJ, Cavenee W, Ghavimi F et al. (1989) A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. Proc Natl Acad Sci USA 86: 7480–7484PubMedCrossRefGoogle Scholar
  22. Turleau C, de Grouchy J (1985) Beckwith-Wiedemann syndrome: clinical comparison between patients with and without 11p15 trisomy. Ann Genet 28: 93–96PubMedGoogle Scholar
  23. Wang-Wuu S, Soukup S, Bove K et al. (1990) Chromosome analysis of 31 Wilms’ tumor. Cancer Res 50: 2786–2793Google Scholar
  24. Wiedemann HR (1983) Tumors and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 12 414–129Google Scholar
  25. Zbar B, Brauch H, Talmadge C et al. (1987) Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature 327: 721–724PubMedCrossRefGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 1992

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  • C. Junien

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