Von Hippel-Lindau disease: A hereditary disease with variable impact on many tissues;Une maladie genetique a impact tissulaire multiple: La maladie de von Hippel-Lindau

Presse Medicale

Volumn 27, Issue 22, 1998, Pages 1112-1120

  Richard, S ^a   Giraud, S ^b   Hammel, P ^c   Beroud, C ^a   Joly, D ^a   Olschwang, S ^d   Resche, F ^e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c BEAUJON HOSPITAL   (France)

^d FONDATION JEAN DAUSSET CEPH   (France)

^e CHU de Nantes   (France)

Author keywords

[No Author keywords available]

Indexed keywords

(3 IODOBENZYL)GUANIDINE; AMINO ACID; METADRENALIN; PENTETREOTIDE; VASCULOTROPIN;

AMINO ACID SUBSTITUTION; CHROMOSOME 3; CLEAR CELL CARCINOMA; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE LOCATION; GENE MUTATION; HEMANGIOBLASTOMA; HUMAN; KIDNEY CARCINOMA; MISSENSE MUTATION; PHEOCHROMOCYTOMA; REVIEW; SOMATIC CELL; TRANSCRIPTION REGULATION; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE; ADOLESCENT; ADULT; AGED; CENTRAL NERVOUS SYSTEM TUMOR; CHILD; GENETIC SCREENING; GENETICS; KIDNEY TUMOR; MANDATORY TESTING; MIDDLE AGED; MORTALITY; MUTATION; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGED; CARCINOMA, RENAL CELL; CENTRAL NERVOUS SYSTEM NEOPLASMS; CHILD; GENES, TUMOR SUPPRESSOR; GENETIC SCREENING; GERM-LINE MUTATION; HIPPEL-LINDAU DISEASE; HUMANS; KIDNEY NEOPLASMS; MANDATORY TESTING; MIDDLE AGED; PEDIGREE;

EID: 0032550963     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (61)

1. Von Hippel E. Vorstellung eines Patienten mit einer sehr ungewöhnlichen Netzhaut. XXIV Verstellung der ophthalmologischen Gesellschaft (Heidelberg, 1895), JF Bergmann Verlag, Wiesbaden : 269.
2. Lindau A. Studien über Kleinhirnzysten. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae. Acta Pathol Microbiol Scand 1926 ; S1:1-128.
3. Richard S, Olschwang S, Chauveau D, Resche F. La maladie de von Hippel-Lindau. Médecine-Sciences 1995 ; 11:43-51.
4. Maher ER, Yates JRW, Harries R et al. Clinical features and natural history of Von Hippel-Lindau disease. Q J Med 1990 ; 77:1151-6.
5. Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989 ; 68:1-29.
6. Neumann HPH, Lips CJM, Hsia YE, Zbar B. Von Hippel-Lindau syndrome. Brain Pathol 1995 ; 5:181-93.
7. Decker HJH, Weidt EJ, Brieger J. The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insights into basic mechanisms of carcinogenesis. Cancer Genet Cytogenet 1997 ; 93:74-83.
8. Resche F, Moisan JP, Mantoura J et al. Hemangioblastomas, hemangioblastomatosis and von Hippel-Lindau disease. Adv Techn Stand Neurosurg 1993 ; 20:197-303.
9. Richard S, Campello C, Taillandier L, Parker F, Resche F. Hemangioblastoma of the central nervous system in von Hippel-Lindau disease. J Intern Med 1998 ; in press.
10. Maher ER, Yates JRW, Ferguson-Smith MA. Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J Med Genet 1990 ; 27:311-4.
11. Maher ER, Moore AT. Von Hippel-Lindau disease. Br J Ophthalmol 1992 ; 76:743-5.
12. Richard S, Chauveau D, Chrétien Y et al. Renal lesions and pheochromocytoma in von Hippel-Lindau disease. Adv Nephrol 1993 ; 23:1-27.
13. Steinbach F, Novick AC, Zincke H et al. Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicentric study. J Urol 1995 ; 153:1812-16.
14. Chauveau D, Duvic C, Chrétien Y et al. Renal involvement in von Hippel-Lindau disease. Kidney Int 1996 ; 50:944-51.
15. Richard S, Beigelman C, Duclos JM et al. Pheochromocytoma as the first manifestation of von Hippel-Lindau disease. Surgery 1994 ; 116:1076-81.
16. Gross DJ, Avishai N, Meiner V, Filon D, Zbar B, Abellovich D. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endocrinol Metab 1996 ; 81:147-9.
17. Neumann HPH, Bender BU, Januszewicz A, Janetschek G, Eng C. Phéochromocytome familial. In:Actualitès Néphrologiques Jean Hamburger, Grünfeld JP, Bach JF, Kreis H eds. Flammarion.Médecine-Sciences 1997 ; 337-50.
18. Hammel P, Beigelman C, Chauveau D et al. Variété des lésions pancréatiques au cours de la maladie de von Hippel-Lindau. Gastroentérol Clin Biol 1995 ; 19:1011-17.
19. Rouquette I., Cervera P, Richard S, Uro E, Daumas-Duport C, Delisle MB. Adénocarcinome papillaire de bas grade du sac endolymphatique. Ann Pathol 1996 ; 16:271-5.
20. Kempermann G, Neumann HPH, Scheremet R et al. Deafness due to bilateral endolymphatic sac tumors in a case of von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatr 1996 ; 61:318-20.
21. Manski TJ, Heffner DK, Glenn GM et al. Endolymphatic sac tumors. A source of hearing loss in von Hippel-Lindau disease. JAMA 1997 ; 277:1461-6.
22. Maddock IR, Moran A, Maher ER et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996 ; 33:120-7
23. Neumann HPH, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991 ; 337:1052-4.
24. Linehan WM, Lerman MI, Zbar B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA 1995 ; 273:564-70.
25. Seizinger BR, Rouleau GA, Ozelius LJ et al. Von Hippel Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988 ; 332:268-9.
26. Latif F, Tory K, Gnarra J et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993 ; 260:1317-20.
27. Tory KH, Brauch H, Linehan M et al. Specific genetic change in tumors associated with von Hippel-Lindau disease. J Natl Cancer Inst 1989 ; 81:1097-101.
28. Los M, Jansen GH, Kaelin WG, Lips CJM, Blijham GHB, Voest EE. Expression pattern of the von Hippel-Lindau protein in human tissues. Lab Invest 1996 ; 75:231-8.
29. Kuzmin I, Duh FM, Geil L, Zbar B, Lerman MI. Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene 1995 ; 10:2185-94.
30. Lee S, Chen DYT, Humphrey JS, Gnarra JR, Linehan WM, Klausner RD. Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density. Proc Natl Acad Sci USA 1996 ; 93:1770-5.
31. Kibel A, Iliopoulos O, Decaprio JA, Kaelin WG. Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 1995 ; 269:1444-6.
32. Duan DR, Pause A, Burgess WH et al. Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 1995 ; 269:1402-6.
33. Aso T, Haque D, Barstead RJ, Conaway RC, Conaway JW. The inducible elongin A elongation activation domain: structure, function and interaction with the elongin BC complex. EMBO J 1996 ; 15:5557-66.
34. Iliopoulos O, Levy AP, Jiang C, Kaelin WG, Goldberg MA. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc Natl Acad Sci USA 1996 ; 93:10595-9.
35. Levy AP, Levy NS, Goldberg MA. Hypoxia-inducible protein binding to vascular endothelial growth factor mRNA ant its modulation by the von Hippel-Lindau protein. J Biom Chem 1996 ; 271:25492-7.
36. Gnarra JR, Zhou S, Merrill MJ et al. Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene. Proc Natl Acad Sci USA 1996 ; 93:10589-94.
37. Wizigmann-Voos S, Breuier C, Risau W, Plate KH. Upregulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastoma. Cancer Res 1995 ; 55:1358-64.
38. Kishida T, Stackouse TM, Chen F, Lerman MI, Zbar B. Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missenses mutations. Cancer Res 1995 ; 55:4544-48.
39. Tsuchiya H., Iseda T, Hino O. Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res 1996 ; 56:2881-5.
40. Mukhopadhyay D, Knebelmann B, Cohen HT, Ananth S, Sukhatme VP. The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. Mol Cel Biol 1997 ; 17:5629-39.
41. Richards FM, Crossey PA, Phipps ME et al. Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Hum Mol Genet 1994 ; 3:595-8.
42. Chen F, Kishida T, Yao M et al. Germline mutations in the Von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995 ; 5:66-75.
43. Zbar B, Kishida T, Chen F et al. Germline mutations in the von Hippel-Lindau (VHL) gene in families from North America, Europe and Japan. Hum Mutat 1996 ; 8:348-57.
44. Brauch H, Kishida T, Glavac D et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 1995 ; 95:551-6.
45. Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.Hum Mol Genet 1995 ; 4:2139-43.
46. Gnarra JR, Tory K, Weng Y et al. Mutations of the VHL tumour suppressor gene in renal cell carcinoma. Nature Genet 1994 ; 7:85-9.
47. Bailly M, Bain C, Favrot MC, Ozturk M. Somatic mutations of von Hippel-Lindau (VHL) tumor-suppressor gene in European kidney cancer. Int J Cancer 1995 ; 63:660-4.
48. Herman JG, Latif F, Weng Y et al. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal cell carcinoma. Proc Natl Acad Sci USA 1995 ; 91:9700-4.
49. Chen F, Kishida T, Duh FM et al. Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene. Cancer Res 1995 ; 55:4804-7.
50. Kanno H, Kondo K, Ito S et al. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastoma. Cancer Res 1994 ; 54:4845-7.
51. Oberstrass J, Reifenberger G, Wechsler W, Collins VP. Mutation of the von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system. J Pathol 1996 ; 179:151-6.
52. Eng C, Crossey PA, Mulligan LM et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic pheochromocytoma. J Med Genet 1995 ; 32:934-7.
53. Hatva E, Böhling T, Jääskeläinen J, Persico MG, Haltia M, Alitalo K. Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas. Am J Pathol 1996 ; 148:763-75.
54. Lubensky IA, Gnarra JR, Bertheau P, Walther MMc, Linehan WM, Zhuang Z. Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients. Am J Pathol 1996 ; 149:2089-94.
55. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 1996 ; 14:1730-6.
56. Neumann HPH, Eng C, Mulligan LM et al. Consequences of direct genetic testing for germline mutations in the clinical management of families with mutiple endocrine neoplasia type II. JAMA 1995 ; 274:1149-51.
57. Olschwang S, Boisson C, Richard S, Resche F, Thomas G. DNA-based presymptomatic diagnosis for the von Hippel-Lindau disease by linkage analysis. Eur J Hum Genet 1995 ; 3:108-15.
58. Olschwang S, Richard S, Boisson C et al. Germline mutation profiles of the VHL gene in VHL disease and in sporadic hemangioblastomas. Hum Mutat, in press.
59. Richard S, Beigelman C, Gerber S et al. L'hémangioblastome existe t-il en dehors de la maladie de von Hippel-Lindau? Neurochir 1994 ; 40:145-54.
60. Neumann HPH, Berger DP, Sigmund G et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. W Engl J Med 1993 ; 329:1531-8.
61. Niemelä M, Lim YJ, Söderman M, Jàaskelainäinen J, Lindquist C. Gamma knife radiosurgery in 11 hemangioblastoma. J Neurosurg 1996 ; 85:591-6.