Pathology, genetics and cell biology of hemangioblastomas

Histology and Histopathology

Volumn 11, Issue 4, 1996, Pages 1049-1061

  Wizigmann Voos, S ^a   Plate, K H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

endothelial cell proliferation; flt 1; KDR; stromal cell; vascular endothelial growth factor (VEGF); vascular permeability; von Hippel Landau (VHL) tumor suppressor gene

Indexed keywords

CELL ADHESION MOLECULE; ENDOTHELIAL CELL GROWTH FACTOR;

ENDOTHELIUM CELL; HEMANGIOBLASTOMA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; REVIEW; TUMOR SUPPRESSOR GENE; VASCULARIZATION; VON HIPPEL LINDAU DISEASE;

BRAIN NEOPLASMS; CEREBELLAR NEOPLASMS; DNA METHYLATION; ENDOTHELIAL GROWTH FACTORS; GENES, TUMOR SUPPRESSOR; HEMANGIOBLASTOMA; HIPPEL-LINDAU DISEASE; HUMANS; LIGASES; LYMPHOKINES; MEDULLA OBLONGATA; NEOVASCULARIZATION, PATHOLOGIC; PROTEINS; SPINAL CORD NEOPLASMS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VASCULAR ENDOTHELIAL GROWTH FACTOR A; VASCULAR ENDOTHELIAL GROWTH FACTORS; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0029856319     PISSN: 02133911     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (111)

1. Aso T., Lane W.S., Conaway J.W. and Conaway R.C. (1995). Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II. Science 269, 1439-1443.
2. Becker I., Paulus W. and Roggendorf W. (1989). Histogenesis of stromal cells in cerebellar hemangioblastomas. An immunohistochemical study. Am. J. Pathol. 134, 271-275.
3. Berkman R.A., Merrill M.J., Reinhold W.C., Monacci W.T., Saxena A., Clark W.C., Robertson J.T., Ali I.U. and Oldfield E.H. (1993). Expression of the vascular permeability factor/vascular endothelial growth factor gene in central nervous system neoplasms. J. Clin. Invest. 91, 153-159.
4. Bonner T., O'Brien S.J., Nash W.G., Rapp U.R. and Morton C.C. (1984). The human homologs of the raf (mil) oncogene are located on chromosomes 3 and 4. Science 223, 71-74.
5. Breier G., Albrecht U., Sterrer S. and Risau W. (1992). Expression of vascular endothelial growth factor during embryonic angiogenesis and endothelial cell differentiation. Development 114, 521-532.
6. Chaudhry A.P., Montes M. and Cohn G.A. (1978). Ultrastructure of cerebellar hemangioblastoma. Cancer 42, 1834-1850.
7. Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J.R., Orcutt M.L, Duh F.M., Glenn G., Green J., Hsia Y.E., Lamiell J., Li H., Wie M.H., Schmidt L., Tory K., Kuzmin I., Stackhouse T., Latif F., Linehan W.M., Lerman M. and Zbar B. (1995a). Germline mutations in the von Nippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum. Mutat. 5, 66-75.
8. Chen F., Kishida T., Duh Fuh-Mei., Renbaum P., Orcutt M.L., Schmidt L. and Zbar B. (1995b). Suppression of growth of renal cell carcinoma cells by the von Hippel-Lindau tumor suppressor gene. Cancer Res. 55, 4804-4807.
9. Collins E.T. (1894). Two cases, brother and sister, with peculiar vascular new growth, probably primarily retinal, affecting both eyes. Trans. Ophthalmol. Soc. 14, 141-149.
10. Collins V.P. (1995). Gene amplification in human gliomas. Glia 15, 289-296.
11. Cornford E.M., Hyman S., Black K.L., Cornford M.E., Vinters H.V. and Partridge W.M. (1995). High expression of the Glut1 glucose transporter in human brain hemangioblastoma endothelium. J. Neuropathol. Exp. Neurol. 54, 842-851.
12. Crossey P.A., Foster K., Richards F.M., Phipps M.E., Latif F., Tory K., Jones M.H., Bentley E., Kumar R., Lerman M.I., Zbar B., Affara N.A., Gerguson-Smth M.A. and Maher E.R. (1994). Molecular genetic investigations of the mechanism of tumorigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum. Genet. 93, 53-58.
13. Crossey P.A., Maher E.R., Jones M.H., Richards F.M., Latif F., Phipps M.E., Lush M., Foster K., Tory K., Green J.S., Oostra B., Yates J.R.W., Linehan W.M., Affara N.A., Lerman M., Zbar B., Nakamura Y. and Fergusonsmith M.A. (1993). Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localization of the VHL locus. Hum. Mol. Genet. 2, 279-282.
14. Crossey P.A., Richards F.M., Foster K., Green J.S., Prowse A., Latif F., Lerman M.I., Zbar B., Affara N.A., Ferguson-Smith M.A. and Maher E.R. (1994). Identification of intragenic mutations in the von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum. Mol. Genet. 3, 1303-1308.
15. De Vries C., Escobedo J.A., Ueno H., Houck K., Ferrara N. and Williams L.T. (1992). The fms-like tyrosine kinase, a receptor for vascular endothelial growth factor. Science 255, 989-991.
16. Decker H.J., Gemmill R.M., Neumann H.P., Walter T.A. and Sandberg A.A. (1989). Loss of heterozygosity on 3p in a renal cell carcinoma in von Hippel-Lindau syndrome. Cancer Genet. Cytogenet. 39, 289-293.
17. Derynck R., Goeddel D.V., Ullrich A., Gutterman J.U., Williams R.D., Bringman T.S. and Berger W.H. (1987). Synthesis of messenger RNAs for transforming growth factors α and β and the epidermal growth factor receptor by human tumors. Cancer Res. 47, 707-712.
18. Diaz-Flores L., Gutiérrez R. and Varela H. (1994). Angiogenesis: an update. Histol. Histopathol. 9, 807-843.
19. Duan D.R., Humphrey J.S., Chen D.Y.T., Weng Y., Sukegawa J., Lee S., Gnarra J.R., Linehan W.M. and Klausner R.D. (1995). Characterization of the VHL tumor suppressor gene product: localization, complex formation and the effect of natural inactivating mutations. Proc. Natl. Acad. Sci. USA 92, 6459-6463.
20. Duan D.R., Pause A., Burgess W.H., Aso T., Chen D.Y., Garrett K.P., Conaway R.C., Conaway J.W., Linehan W.M. and Klausner R.D. (1995). Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 269, 1402-1406.
21. Emery E., Hurth M., Lacroix-Jousselin C., David P. and Richard S. (1994). Intraspinal hemangioblastoma. Apropos of a recent series of 20 cases. Neurochirugie 40, 165-173.
22. Feldenzer J.A. and McKeever P.E. (1987). Selective localization of gamma-enolase in stromal cells of cerebellar hemangioblastomas. Acta Neuropathol. (Berl.) 72, 281-285.
23. Ferrara N., Houck K., Jakeman L. and Leung D.W. (1992). Molecular and biological properties of the vascular endothelial growth factor family of proteins. Endocr. Rev. 31, 18-32.
24. Filling-Katz M.R., Choyke P.L., Patronas N.J., Gorin M.B., Barba D., Chang R., Doppman I.L., Seizinger B.R. and Oldfield E.A. (1989). Radiologic screening for von Hippel-Lindau disease. The role of enhanced MRI in the central nervous system. J. Comp. Ass. Tomography 13, 743-755.
25. Filling-Katz M.R., Choyke P.L., Oldfield E., Charnas L., Patronas N.J., Glenn G.M., Gorin M.B., Morgan J.K., Linehan W.M., Seizinger B.R. and Zbar B. (1991). Central nervous system involvement in von Hippel-Lindau disease. Neurology 41, 41-46.
26. Foster K., Prowse A., van den Berg A., Fleming S., Hulsbeek M.M., Crossey P.A., Richards F.M., Cairns P., Affara N.A., Ferguson-Smith M.A., Buys C.H.C.M. and Maher E.R. (1994). Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum. Mol. Genet. 3, 2169-2173.
27. Frank T.S., Trojanowski J.Q., Roberts S.A. and Brooks J.J. (1989). A detailed immunohistochemical analysis of cerebellar hemangioblastoma: an undifferentiated mesenchymal tumor. Mod. Pathol. 2, 638-651.
28. Gao J., Naglich J.G., Laidlaw J., Whaley J.M., Seizinger B.R. and Kley N. (1995). Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene. Cancer Res. 55, 743-747.
29. Gill R.M., Hamel P.A., Zhe J., Zackensenhaus E., Gallie B.L. and Phillips R.A. (1994). Characterization of the human RB1 Promoter and of elements involved in transcriptional regulation. Cell Growth Differ. 5, 467-474.
30. Gitay-Goren H., Halaban R. and Neufeld G. (1993). Human melanoma cells but not normal melanocytes express vascular endothelial growth factor receptors. Biochem. Biophys. Res. Comm. 190, 702-709.
31. Gnarra J.R., Tory K., Weng Y., Schmidt L., Wei M.H., Li H., Latif F., Liu S., Chen F., Duh F.-M., Lubensky I., Duan D.R., Florence C., Pozzatti R., Walther M.M., Bander N.H., Grossmann H.B., Brauch H., Pomer S., Brooks J.D., Isaacs W.B., Lerman M.I., Zbar B. and Linehan W.M. (1994). Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat. Gen. 7, 85-89.
32. Goodman M.D., Goodman B.K., Lubin M.B., Braunstein G., Rotter J.I. and Schreck R.R. (1990). Cytogenetic characterization of renal cell carcinoma in von Hippel-Lindau syndrome. Cancer 65, 1150-1154.
33. Green J.S., Bowmer M.I. and Johnson G.J. (1986). Von Hippel-Lindau disease in a Newfoundland kindred. Can. Med. Ass. J. 134, 133-146.
34. Hatva E., Böhling T., Jääskelainen J., Persico M.G., Haltia M. and Alitallo K. (1996). Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas. Am. J. Pathol. 148, 763-775.
35. Herman J.G., Latif F., Weng Y., Lerman M.I., Zbar B., Liu S., Samid D., Duan D.S., Gnarra J.R., Linehan W.M. and Baylin S.B. (1994). Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl. Acad. Sci. USA 91, 9700-9704.
36. Hippel von E. (1911). Die anatomische Grundlage der von mir beschriebenen «sehr seltenen Erkrankung der Netzhaut». Graefs Arch. Opthal. 79, 350-377.
37. Ho K.-L (1984). Ultrastructure of cerebellar hemangioblastoma. I. Weibel-Palade bodies and stromal cell histogenesis. J. Neuropathol. Exp. Neurol. 43, 592-608.
38. Hofmann W., Royer H.D., Drechsler M., Schneider S. and Royer P.B. (1993). Characterization of the transcriptional regulatory region of the human WT1 gene. Oncogene 8, 3123-3132.
39. Holt S.C., Bruner J.M. and Ordonez N.G. (1986). Capillary hemangioblastoma. An immunohistochemical study. Am. J. Clin. Pathol. 86, 423-429.
40. Horton W.A., Wong V. and Eldridge R. (1976). Von Hippel-Lindau disease. Arch. Int. Med. 136, 769-777.
41. Hosoe S., Brauch H., Latif F., Glenn G., Daniel L., Baie S., Choyke P., Gorin M., Oldfield E., Berman A., Goodman J., Orcutt M.L., Hampsch K., Delisio J., Modi W., McBride W., Anglard P., Weiss G., Walther M.M., Linehan W.M., Lerman M.I. and Zbar B. (1990). Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics 8, 634-660.
42. Houck K.A., Ferrara N., Winer J., Cachianes G., Li B. and Leung D. (1991). The vascular endothelial growth factor family: identification of a fourth molecular species and characterization of alternative splicing of RNA. Mol. Endocrinol. 5, 1806-1814.
43. Ikeda E., Achen M.G., Breier G. and Risau W. (1995). Hypoxia-induced transcriptional activation and increased mRNA stability of vascular endothelial growth factor in C6 glioma cells. J. Biol. Chem. 270, 19761-19766.
44. Iliopoulos O., Kibel A., Gray S. and W.G. Kaelin J. (1995). Tumor suppression by the human von Hippel-Lindau gene product. Nature Med. 1, 822-826.
45. Julow J., B'Aliut K., Gortvai P. and P'Asztor E. (1994). Posterior fossa haemangioblastomas. Acta Neurochir. 128, 109-114.
46. Jurco S.E., Nadji M., Harvey D.G., Parker J.C.J., Font R.L. and Morales A.R. (1982). Hemangioblastomas: histogenesis of the stromal cell studied by immunocytochemistry. Hum. Pathol. 13, 13-18.
47. Kamitani H., Masuzawa H., Sato J. and Kanazawa I. (1987). Capillary hemangioblastoma: histogenesis of stromal cells. Acta Neuropathol. (Berlin) 73, 370-378.
48. Kandel J., Bossy-Wetzel E., Radvanyi F., Klagsbrun M., Folkman J. and Hanahan D. (1991). Neovascularization is associated with a switch to the export of bFGF in the multistep development of fibrosarcoma. Cell 66, 1095-1104.
49. Kanno H., Kondo K., Ito S., Yammamoto I., Fujii S., Torigoe S., Sakai N., Hosaka M., Shuin T. and Yao M. (1994). Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res. 54, 4845-4847.
50. Keck P.J., Hauser S., Krivi G., Sanzo K., Warren T., Feder J. and Conolly D.T. (1989). Vascular permeability factor, an endothelial cell mitogen related to PDGF. Science 246, 1309-1312.
51. Kepes J.J., Rengachary S.S. and Lee S.H. (1979). Astrocytes in hemangioblastomas of the central nervous system and their relationship to stromal cells. Acta Neuropathol. (Berl.) 47, 99-104.
52. Kessler P.M., Vasavada S.P., Rackley R.R., Stackhouse T., Duh F.-M., Latif F., Lerman M.I., Zbar B. and Williams B.R.G. (1995). Expression of the von Hippel-Lindau tumor suppressor gene, VHL, In human fetal kidney and during mouse embryogenesis. Mol. Med. 1, 457-466.
53. Kibel A., Iliopoulos O., DeCaprio J.A. and Kaelin W.G.J. (1995). Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 269, 1444-1446.
54. Klagsbrun M. and D'Amore P.A. (1991). Regulators of angiogenesis. Annu. Rev. Physiol. 53, 217-239.
55. Kleihues P., Burger P.C. and Scheithauer B.W. (1993). Histological typing of tumours of the nervous system. Springer. Berlin.
56. Knudson A.G. (1985). Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 45, 1437-1443.
57. Kuzmin I., Stackhouse T., Latif F., Duh F.M., Geil L., Gnarra J., Yao M., Orcutt M.L., Li H., Tory K., Lepaslier D., Chumakov I., Cohen D., Chinault A.C., Linehan W.M., Lerman M.I. and Zbar B. (1994). One-megabase yeast artificial chromosome and 400-kilobase cosmidphage contigs containing the von Hippel-Lindau tumor suppressor and Ca(2+)-transporting adenosine triphosphatase isoform 2 genes. Cancer Res. 54, 2486-2491.
58. Kuzmin I., Duh F.-M., Latif F., Geil L., Zbar B. and Lerman M.I. (1995). Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene 10, 2185-2194.
59. Lamb P. and Crawford L. (1986). Characterization of the human p53 gene. Mol. Cell Biol. 6, 1379-1385.
60. Lamiell J.M., Salazar F.G. and Hsia Y.E. (1989). Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 68, 1-29.
61. Lampugnani M.G., Resnati M., Raiteri M., Pigott R., Pisacane A., Houen G., Ruco L.P. and Dejana E. (1992). A novel endothelial-specific membrane protein is a marker of cell-cell contacts. J. Cell Biol. 118, 1511-1522.
62. Latif F., Tory K., Gnarra J., Yao M., Duh F.M., Orcutt M.L., Stackhouse T., Kuzmin I., Modi W., Geil L., Schmidt L., Zhou F., Li H., Wie M.H., Chen F., Glenn G., Choyke P., Walther M.W., Weng Y., Duan D-S.R., Dean M., Glavac D., Richards F.M., Crossey P.A., Ferguson-Smith M.A., Paslier L.D., Chumakov I., Cohen D., Chinault C., Maher E.R., Linehan W.M., Zbar B. and Lerman M.I. (1993). Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260, 1317-1320.
63. Leung D.W., Cachianes G., Kuang W.J., Goeddel D.V. and Ferrara N. (1989). Vascular endothelial growth factor is a secreted angiogenic mitogen. Science 246, 1306-1309.
64. Lindau A. (1926). Cysts in the cerebellum (structure, pathogenesis and relations to angiomatosis retina). Acta Pathol. Microbiol. Scand. Suppl. 1.
65. Luelleke N.C. and Lee D.C. (1990). Transforming growth factor α: expression, regulation and biological action of its integral membrane precursor. Semin. Cancer Biol. 1, 265-275.
66. Maher E.R., Yates J.R. and Fergusoh-Smith M.A. (1990a). Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar hemangioblastoma and renal cell carcinoma. J. Med. Genet. 27, 311-314.
67. Maher E.R., Yates J.R., Harries R., Benjamin C., Harris R., Moore AT. and Ferguson-Smith M.A. (1990b). Clinical features and natural history of von Hippel-Lindau disease. Q. J. Med. 77, 1151-1163.
68. Maher E.R., Bentley E., Yates J.R., Latif F., Lerman M., Zbar B., Affara N.A. and Ferguson-Smith M.A. (1991 a). Mapping of the von Hippel-Lindau disease locus to a small region of chromosomes 3p by genetic linkage analysis. Genomics 10, 957-960.
69. Maher E.R., Iselius L., Yates J.R.W., Littler M., Benjamin C., Harris R., Sampson J., Williams A., Ferguson-Smith M.A. and Morton N. (1991b). Von Hippel-Lindau disease: a genetic study. J. Med. Genet. 28, 443-447.
70. McComb R.D., Jones T.R., Pizzo S.V. and Bigner D.D. (1982). Localization of factor VIII/von Willebrand factor and glial fibrillary acidic protein in the hemangioblastoma: implications for stromal cell histogenesis. Acta Neuropathol. (Berl). 56, 207-213.
71. Melmon K.L. and Rosen S.W. (1964). Lindau's disease: review of the literature and study of a large kindred. Am. J. Med. 36, 595-617.
72. Millauer B., Wizigmann-Voos S., Schürch H., Martínez R., Møller N.P.H., Risau W. and Ullrich A. (1993). High affinity VEGF binding and developmental expression suggest Flk-1 as a major regulator of vasculogenesis and angiogenesis. Cell 72, 835-846.
73. Millauer B., Shawver L.K., Plate K.H., Risau W. and Ullrich A. (1994). Glioblastoma growth inhibited in vivo by a dominant-negative FlK-1 mutant. Nature 367, 576-579.
74. Monte, de la S.M. and Horowitz S.A. (1989). Hemangioblastomas: clinical and histopathological factors correlated with recurrence. Neurosurgery 26, 695-698.
75. Morii K., Tanaka R., Washiyama K., Kumanishi T. and Kuwano R. (1993). Expression of vascular endothelial growth factor in capillary hemangioblastoma. Biochem. Biophys. Res. Commun. 194, 749-755.
76. Nemes Z. (1992). Fibrohistiocytic differentiation in capillary hemangioblastoma. Hum. Pathol. 23, 805-810.
77. Neumann H.P.H. (1987). Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. J. Vase. Dis. 16, 220-226.
78. Neumann H.P.H. and Wiestler O.D. (1991). Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337, 1052-1054.
79. Neumann H.P.H., Eggert H.R., Weigel K., Friedburg H., Wiestler O.D. and Schollmeyer P. (1989). Hemangioblastomas of the central nervous system. J. Neurosurg. 70, 24-30.
80. Neumann H.P., Dinkel E., Brambs H., Wimmer B., Friedburg H., Volk B., Sigmund G., Riegler P., Haag K., Schollmeyer P. and Wiestier O.D. (1991). Pancreatic lesions in the von Hippel-Lindau syndrome. Gastroenterology 101, 465-471.
81. Neumann H.P.H., Eggert H.R., Scheremet R., Schumacher M., Mohadjer M., Wakhloo A.K., Volk B., Hettmannsperger U., Riegler P., Schollmeyer P. and Wiestler O. (1992). Central nervous system lesions in von Hippel-Lindau syndrome. J. Neurol. Neurosurg. Psych. 55, 898-901.
82. Neumann H.P., Berger D.P., Sigmund G., Blum U., Schmidt D., Parmer R.J., Volk B. and Kirste G. (1993). Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N. Engl. J. Med. 329, 1531-1538.
83. Neumann H.P.H., Lips C.J.M., Hsia Y.E. and Zbar B. (1995). von Hippel-Lindau syndrome. Brain Pathol. 5, 181-193.
84. Peters K.G., De Vries C. and Williams L.T. (1993). Vascular endothelial growth factor receptor expression during embryogenesis and tissue repair suggests a role in endothelial differentiation and blood vessel growth. Proc. Natl. Acad. Sci. USA 90, 8915-8919.
85. Plate K.H., Breier G., Weich H.A. and Risau W. (1992). Vascular endothelial growth factor is a potential tumor angiogenesis factor in human gliomas in vivo. Nature 359, 845-847.
86. Plate K.H., Breier G., Millauer B., Ullrich A. and Risau W. (1993). Upregulation of vascular endothelial growth factor and its cognate receptors in a rat glioma model of tumor angiogenesis. Cancer Res. 53, 5822-5827.
87. Plate K.H., Breier G. and Risau W. (1994). Molecular mechanisms of developmental and tumor angiogenesis. Brain Pathol. 4, 207-218.
88. Quinn T.P., Peters K.G., De Vries C., Ferrara N. and Williams L.T. (1993). Fetal liver kinase-1 is a receptor for vascular endothelial growth factor and is selectively expressed in vascular endothelium. Proc. Natl. Acad. Sci. USA 90, 7533-7537.
89. Reifenberger G., Reifenberger J., Bilzer T., Wechsler W. and Collins V.P. (1995). Coexpression of transforming growth factor-alpha and epidermal growth factor receptor in capillary hemangioblastomas of the central nervous system. Am. J. Pathol. 147, 245-250.
90. Richards F.M., Phipps M.E., Latif F., Yao M., Crossey P.A., Foster K., Linehan W.M., Affara N.A., Lerman M.I., Zbar B., Ferguson-Smith M.A. and Maher E.R. (1993). Mapping the von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum. Mol. Genet. 2, 879-882.
91. Russel D.S. and Rubinstein L.J. (1989). Pathology of tumours of the nervous system. 5th ed. Edward Arnold. London, pp 639-662.
92. Schultz G., Rotatori D.S. and Clerk W. (1991). EGF and TGFα in wound healing and repair. J. Cell. Biochem. 45, 346-352.
93. Seizinger B.R., Rouleau G.A., Ozelius L.J., Lane A.M., Farmer G.E., Lamiell J.M., Haines J., Yuen J.W., Collins D., Majoor-Krakauer D., Bonner T., Mathew C., Rubenstein A., Halperin J., McConkie-Rosell A., Green J.S., Trofatter JA, Ponder B.A., Eierman L., Bowmer M.I., Schimke R., Oostra B., Aronin N., Smith D.I., Drabkin H., Waziri M.H., Hobbs W.J., Martuza R.L., Conneally P.M., Hsia Y.E. and Gusella J.F. (1988). Von Hippel-Lindau disease maps to the region of chromsome 3 associated with renal cell carcinoma. Nature 333, 268-269.
94. Seizinger B.R., Smith D.I., Filling-Katz M.R., Neumann H., Green J.S., Choyke P.L., Anderson K.M., Freiman R.N., Klauck S.M., Whaley J., Decker H.J.H., Hsia Y.E., Collins D., Halperin J., Lamiell J.M., Oostra B., Waziri M.H., Gorin M.B., Scherer G., Drabkin H.A., Aronin N., Schinzel A., Martuza R.L., Gusella J.F. and Haines J.L. (1991). Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of von Hippel Lindau disease. Proc. Natl. Acad. Sci. USA 88, 2864-2868.
95. Shibuya M., Yamaguchi S., Yamane A., Ikeda T., Tojo A., Matsushime H. and Sato M. (1990). Nucleotide sequence and expression of a novel human receptor-type tyrosine kinase gene (flt) closely related to the fms family. Oncogene 5, 519-524.
96. Shuin T., Kondo K., Torigoe S., Kishida T., Kubota Y., Hosaka M., Nagashima Y., Kitamura H., Latif F., Zbar B., Lerman M.I. and Yao M. (1994). Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res. 54, 2852-2855.
97. Shweiki D., Itin A., Soffer D. and Keshet E. (1992). Vascular endothelial growth factor induced by hypoxia may mediate hypoxia-initiated angiogenesis. Nature 359, 843-845.
98. Spence A.M. and Rubinstein L.J. (1975). Cerebellar capillary hemangioblastoma: its histogenesis studied by organ culture and electron microscopy. Cancer 35, 326-341.
99. Tachibana O., Yamashima T., Yamashita J. and Takinami K. (1994). Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. Noshuyo Byori 11, 169-172.
100. Takahashi T., Shirasawa T., Miyake K., Yahagi Y., Maruyama N., Kasahara N., Kawamura T., Matsumura O., Mitarai T. and Sakai O. (1995). Protein tyrosine kinase expressed in glomeruli and cultured glomerular cells: Flt-1 and VEGF expression in renal mesangial cells. Biochem. Biophys. Commun. 209, 218-226.
101. Terman B.I., Carrion M.E., Kovacs E., Rasmussen B.A., Eddy R.L. and Shows T.B. (1991). Identification of a new endothelial cell growth factor receptor tyrosine kinase. Oncogene 6, 1677-1683.
102. Terman B.I., Dougher-Vermazen M., Carrion M.E., Dimitrov D., Armellino D.C., Gospadarowicz D. and Böhlen P. (1992). Identification of the KDR tyrosine kinase as a receptor for vascular endothelial cell growth factor. Biochem. Biophys. Res. Comm. 187, 1579-1586.
103. Thoenes W., Storkel S., Rumpelt H.J. and Moll R. (1990). Cytomorphological typing of renal cell carcinoma- a new approach. Eur. Urol. 18 (Suppl. 2), 6-9.
104. Tory K., Brauch H., Linehan M., Barba D., Oldfield E., Filling-Katz M.R., Seizinger B., Nakamura y., White R., Marshall F.F., Lerman M.I. and Zbar B. (1989). Specific genetic change in tumors associated with von Nippel-Lindau disease. J. Natl. Cancer Inst. 81, 1097-1101.
105. Wagner D.D., Olmsted J.B. and Marder V.J. (1982). Immunolocalization of von Willebrand factor protein in Weibel-Palade bodies of human endothelial cells. J. Cell Biol. 95, 355-360.
106. Waldmann T.A., Levin H.E. and Baldwin M. (1961). The association of polycythemia with a cerebellar hemangioblastoma: the production of an erythropoiesis-stimulating factor by the tumor. Am. J. Med. 31, 318-324.
107. Weibel E.R. and Palade G.E. (1964). New cytoplasmic components in arterial endothelia. J. Cell Biol. 23, 101-112.
108. Whaley J.M., Naglich J., Gelbert L., Hsia Y.E., Lamiell J.M., Green J.S., Collins D., Neumann H.P., Laidlaw J., Li P.P., Klein-Szanto A.J.P., Seizinger B.R. and Kley N. (1994). Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am. J. Hum. Genet. 55, 1092-1102.
109. Wizigmann-Voos S., Breier G., Risau W. and Plate K.H. (1995). Upregulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas. Cancer Res. 55, 1358-1364.
110. Zhuang Z., Emmert-Buck M.R., Roth M.J., Gnarra J., Linehan W.M., Liotta L. and Lubensky I.A. (1996). Von Hippel-Lindau disease gene deletion detected in microdissected sporadic human colon carcinoma specimens. Human Pathol. 27, 152-156.
111. Zülch K.J. (1986). Brain tumors. Their biology and pathology. 3rd. ed. Springer-Verlag. Berlin, Heidelberg, New York, Tokyo, pp 401-407.