메뉴 건너뛰기




Volumn 32, Issue 3, 2005, Pages 157-167

Von Hippel-Lindau disease: Recent advances in genetics and clinical management;Maladie de Von Hippel-lindau: Progrès génétiques et cliniques récents

Author keywords

Hemangioblastoma; Hypoxia inducible factor; PTK inhibitors; Renal cell carcinoma; Von Hippel Lindau

Indexed keywords

HYPOXIA INDUCIBLE FACTOR 1; PROTEASOME; VON HIPPEL LINDAU PROTEIN;

EID: 20844442616     PISSN: 01509861     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0150-9861(05)83133-5     Document Type: Review
Times cited : (8)

References (34)
  • 1
    • 0036712736 scopus 로고    scopus 로고
    • Rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor SU5416
    • AIELLO LP, GEORGE DJ, CAHILL MT et al. Rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor SU5416. Ophthalmology 2002; 109: 1745-1751,
    • (2002) Ophthalmology , vol.109 , pp. 1745-1751
    • Aiello, L.P.1    George, D.J.2    Cahill, M.T.3
  • 2
    • 18744373593 scopus 로고    scopus 로고
    • Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    • ANG SO, CHEN H, HIROTA K et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002; 32: 614-621.
    • (2002) Nat Genet , vol.32 , pp. 614-621
    • Ang, S.O.1    Chen, H.2    Hirota, K.3
  • 3
    • 0034887876 scopus 로고    scopus 로고
    • VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
    • BENDER BU, ENG C, OLSCHEWSKI M et al. VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. J Med Genet 2001; 38: 508-514.
    • (2001) J Med Genet , vol.38 , pp. 508-514
    • Bender, B.U.1    Eng, C.2    Olschewski, M.3
  • 4
    • 0031862721 scopus 로고    scopus 로고
    • Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery
    • CHANG SD, MEISEL JA, HANCOCK SL, MARTIN DP, MCMANUS M, ADLER JR Jr. Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. Neurosurgery 1998; 43: 28-35.
    • (1998) Neurosurgery , vol.43 , pp. 28-35
    • Chang, S.D.1    Meisel, J.A.2    Hancock, S.L.3    Martin, D.P.4    McManus, M.5    Adler Jr., J.R.6
  • 5
    • 0029744920 scopus 로고    scopus 로고
    • Renal involvement in von Hippel-Lindau disease
    • CHAUVEAU D, DUVIC C, CHRÉTIEN Y et al. Renal involvement in von Hippel-Lindau disease. Kidney Int 1996; 50: 944-951.
    • (1996) Kidney Int , vol.50 , pp. 944-951
    • Chauveau, D.1    Duvic, C.2    Chrétien, Y.3
  • 6
    • 0035266403 scopus 로고    scopus 로고
    • The 104-123 amino acid sequence of the β-domain of von Hippel-Lindau gene product is sufficient to inhibit renal tumor growth and invasion
    • DATTA K, SUNDBERG, KARUMANCHI SA, MUKHOPADHYAY D. The 104-123 amino acid sequence of the β-domain of von Hippel-Lindau gene product is sufficient to inhibit renal tumor growth and invasion. Cancer Res 2001; 61: 1768-1775.
    • (2001) Cancer Res , vol.61 , pp. 1768-1775
    • Datta, K.1    Sundberg2    Karumanchi, S.A.3    Mukhopadhyay, D.4
  • 7
    • 0036727853 scopus 로고    scopus 로고
    • Ocular manifestations in von Hippel-Lindau disease: A clinical and molecular study
    • DOLLFUS H, MASSIN P, TAUPIN P et al. Ocular manifestations in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 2002; 43: 3067-3074.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 3067-3074
    • Dollfus, H.1    Massin, P.2    Taupin, P.3
  • 8
    • 0036667385 scopus 로고    scopus 로고
    • Protein tyrosine kinase inhibitors: New treatment modalities?
    • FABBRO D, PARKINSON D, MATTER A. Protein tyrosine kinase inhibitors: new treatment modalities? Curr Opin Pharmacol 2002; 2: 374-381.
    • (2002) Curr Opin Pharmacol , vol.2 , pp. 374-381
    • Fabbro, D.1    Parkinson, D.2    Matter, A.3
  • 10
    • 0038015673 scopus 로고    scopus 로고
    • Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas
    • GIRMENS JF, ERGINAY A, MASSIN P, SCIGALLA P, GAUDRIC A, RICHARD S. Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. Am J Ophthalmol 2003; 136: 194-196.
    • (2003) Am J Ophthalmol , vol.136 , pp. 194-196
    • Girmens, J.F.1    Erginay, A.2    Massin, P.3    Scigalla, P.4    Gaudric, A.5    Richard, S.6
  • 11
    • 0035852668 scopus 로고    scopus 로고
    • Vascular tumors in liver with targeted inactivation of the von Hippel-Lindau tumor suppressor
    • HAASE VH, GLICKMAN JN, SOCOLOVSKY M, JAENISH R. Vascular tumors in liver with targeted inactivation of the von Hippel-Lindau tumor suppressor. Proc Natl Acad Sci 2001; 98: 1583-1588.
    • (2001) Proc Natl Acad Sci , vol.98 , pp. 1583-1588
    • Haase, V.H.1    Glickman, J.N.2    Socolovsky, M.3    Jaenish, R.4
  • 12
    • 0033770179 scopus 로고    scopus 로고
    • Pancreatic involvement in von Hippel-Lindau's disease: Prevalence, course and impact in the management of patients
    • HAMMEL P, VILGRAIN V, TERRIS B et al. Pancreatic involvement in von Hippel-Lindau's disease: prevalence, course and impact in the management of patients. Gastroenterology 2000; 119: 1087-1095.
    • (2000) Gastroenterology , vol.119 , pp. 1087-1095
    • Hammel, P.1    Vilgrain, V.2    Terris, B.3
  • 13
    • 0035131313 scopus 로고    scopus 로고
    • Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-Year experience
    • HERRING JC, ENQUIST EG, CHERNOFF A, LINEHAN WM, CHOYKE P, WALTHER McM. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol 2001; 165: 777-781.
    • (2001) J Urol , vol.165 , pp. 777-781
    • Herring, J.C.1    Enquist, E.G.2    Chernoff, A.3    Linehan, W.M.4    Choyke, P.5    Walther, Mc.M.6
  • 14
    • 0037340392 scopus 로고    scopus 로고
    • Clinical review 155: Pheochromocytoma in von Hippel-Lindau disease
    • HES FJ, HOPPENER JW, LIPS CJ. Clinical review 155: Pheochromocytoma in von Hippel-Lindau disease. J Clin Endocrinol Metab 2003; 88: 969-974.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 969-974
    • Hes, F.J.1    Hoppener, J.W.2    Lips, C.J.3
  • 15
    • 0035336706 scopus 로고    scopus 로고
    • Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF
    • HOFFMAN MA, OHH M, YANG H, KLCO JM, IVAN M, KAELIN Jr WG Jr. Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 2001; 10: 1019-1027.
    • (2001) Hum Mol Genet , vol.10 , pp. 1019-1027
    • Hoffman, M.A.1    Ohh, M.2    Yang, H.3    Klco, J.M.4    Ivan, M.5    Kaelin Jr., W.G.6
  • 16
    • 0036718539 scopus 로고    scopus 로고
    • Molecular basis of the VHL hereditary cancer syndrome
    • KAELIN WG Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002; 2: 673-682.
    • (2002) Nat Rev Cancer , vol.2 , pp. 673-682
    • Kaelin Jr., W.G.1
  • 18
    • 20244383434 scopus 로고    scopus 로고
    • Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease
    • MANSKI TJ, HEFFNER DK, GLENN GM et al. Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. MMA 1997; 277: 1461-1466.
    • (1997) MMA , vol.277 , pp. 1461-1466
    • Manski, T.J.1    Heffner, D.K.2    Glenn, G.M.3
  • 19
    • 0033587146 scopus 로고    scopus 로고
    • The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
    • MAXWELL PH, WIESENER MS, CHANG GW et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999; 399: 271-275.
    • (1999) Nature , vol.399 , pp. 271-275
    • Maxwell, P.H.1    Wiesener, M.S.2    Chang, G.W.3
  • 20
    • 0032322491 scopus 로고    scopus 로고
    • Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma
    • NEUMANN HPH, BENDER BU, BERGER DP et al. Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 1998; 160: 1248-1254.
    • (1998) J Urol , vol.160 , pp. 1248-1254
    • Neumann, H.P.H.1    Bender, B.U.2    Berger, D.P.3
  • 21
    • 0037046659 scopus 로고    scopus 로고
    • Germline mutations in nonsyndromic pheochromocytoma
    • NEUMANN HPH, BAUSH B, MCWHINNEY SR et al. Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466.
    • (2002) N Engl J Med , vol.346 , pp. 1459-1466
    • Neumann, H.P.H.1    Baush, B.2    McWhinney, S.R.3
  • 23
    • 0034900366 scopus 로고    scopus 로고
    • Interferon-2α therapy in 18 hemangioblastomas
    • NIEMELÄ M, MÄENPÄÄ H, SALVEN P et al. Interferon-2α therapy in 18 hemangioblastomas. Clin Cancer Res 2001; 7: 510-516.
    • (2001) Clin Cancer Res , vol.7 , pp. 510-516
    • Niemelä, M.1    Mäenpää, H.2    Salven, P.3
  • 24
    • 0031762403 scopus 로고    scopus 로고
    • Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    • OLSCHWANG S, RICHARD S, BOISSON C et al. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Hum Mutat 1998; 12: 424-430.
    • (1998) Hum Mutat , vol.12 , pp. 424-430
    • Olschwang, S.1    Richard, S.2    Boisson, C.3
  • 25
    • 0037441601 scopus 로고    scopus 로고
    • Mutations in the VHL gene in sporadic apparently congenital polycythemia
    • PASTORE YD, JELINEK J, ANG S et al. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003; 101: 1591-1595.
    • (2003) Blood , vol.101 , pp. 1591-1595
    • Pastore, Y.D.1    Jelinek, J.2    Ang, S.3
  • 26
    • 0036135236 scopus 로고    scopus 로고
    • Percutaneous radio frequency ablation of small renal tumors: Initial results
    • PAVLOVICH CP, WALTHER McCM, CHOYKE PL et al. Percutaneous radio frequency ablation of small renal tumors: initial results. J Urol 2002; 167: 10-15.
    • (2002) J Urol , vol.167 , pp. 10-15
    • Pavlovich, C.P.1    Walther, Mc.C.M.2    Choyke, P.L.3
  • 27
    • 0034098260 scopus 로고    scopus 로고
    • Central nervous system hemangioblastomas, endolymphatic sac tumors and von Hippel-Lindau disease
    • RICHARD S, DAVID Ph, MARSOT-DUPUCH K et al. Central nervous system hemangioblastomas, endolymphatic sac tumors and von Hippel-Lindau disease. Neurosurg Rev 2000; 23: 1-22.
    • (2000) Neurosurg Rev , vol.23 , pp. 1-22
    • Richard, S.1    David, Ph.2    Marsot-Dupuch, K.3
  • 28
    • 0037395880 scopus 로고    scopus 로고
    • Von Hippel-Lindau disease: Recent advances and therapeutic perspectives
    • RICHARD S. Von Hippel-Lindau disease: recent advances and therapeutic perspectives. Exp Rev Anticancer Therapy 2003; 3: 215-233.
    • (2003) Exp Rev Anticancer Therapy , vol.3 , pp. 215-233
    • Richard, S.1
  • 30
    • 0036216692 scopus 로고    scopus 로고
    • HIF-1 and tumor progression: Pathophysiology and therapeutics
    • SEMENZA GL. HIF-1 and tumor progression: pathophysiology and therapeutics. Trends Mol Med 2002; 8: S27-S31.
    • (2002) Trends Mol Med , vol.8
    • Semenza, G.L.1
  • 31
    • 10744226679 scopus 로고    scopus 로고
    • Developmental arrest of angioblastic lineage initiates tumorigenesis in von Hippel-Lindau disease
    • VORTMEYER AO, FRANK S, JEONG S et al. Developmental arrest of angioblastic lineage initiates tumorigenesis in von Hippel-Lindau disease. Cancer Res 2003; 63: 7051-7055.
    • (2003) Cancer Res , vol.63 , pp. 7051-7055
    • Vortmeyer, A.O.1    Frank, S.2    Jeong, S.3
  • 32
    • 0037222647 scopus 로고    scopus 로고
    • The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease
    • WANEBO JE, LONSER RR, GLENN GM, OLDFIELD EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 2003; 98: 82-94.
    • (2003) J Neurosurg , vol.98 , pp. 82-94
    • Wanebo, J.E.1    Lonser, R.R.2    Glenn, G.M.3    Oldfield, E.H.4
  • 33
    • 0032231366 scopus 로고    scopus 로고
    • An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease : Evidence for modifier effects
    • WEBSTER AR, RICHARDS FM, MACRONALD FE, MOORE AT, MAHER ER. An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease : evidence for modifier effects. Am J Hum Genet 1998; 63: 1025-1035.
    • (1998) Am J Hum Genet , vol.63 , pp. 1025-1035
    • Webster, A.R.1    Richards, F.M.2    MacRonald, F.E.3    Moore, A.T.4    Maher, E.R.5
  • 34
    • 16144365122 scopus 로고    scopus 로고
    • Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    • ZBAR B, KISHIDA T, CHEN F et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 1996; 8: 348-357.
    • (1996) Hum Mutat , vol.8 , pp. 348-357
    • Zbar, B.1    Kishida, T.2    Chen, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.