Von Hippel-Lindau disease: Molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment

Japanese Journal of Clinical Oncology

Volumn 36, Issue 6, 2006, Pages 337-343

  Shuin, Taro ^a,b   Yamasaki, Ichiro ^a   Tamura, Kenji ^a   Okuda, Heiwa ^a   Furihata, Mutsuo ^a   Ashida, Shingo ^a  

^a KOCHI MEDICAL SCHOOL   (Japan)

^b NONE   (Japan)

Author keywords

Diagnosis and treatment; Pathogenesis of tumor development; VHL disease

Indexed keywords

ELONGIN BC; HYPOXIA INDUCIBLE FACTOR 1; INTERFERON; SEMAXANIB; THALIDOMIDE; TUMOR SUPPRESSOR PROTEIN; VASCULOTROPIN; VASCULOTROPIN INHIBITOR; VON HIPPEL LINDAU PROTEIN;

CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DRUG TARGETING; FREQUENCY ANALYSIS; GENE IDENTIFICATION; GENE INACTIVATION; GENE TARGETING; GENETIC ANALYSIS; GOVERNMENT; HEMANGIOBLASTOMA; HUMAN; INTERNATIONAL COOPERATION; KIDNEY CARCINOMA; PANCREAS TUMOR; PATHOGENESIS; PHEOCHROMOCYTOMA; PROGNOSIS; PROTEIN FUNCTION; PSYCHOLOGICAL ASPECT; REVIEW; SOCIAL SUPPORT; SURGICAL TECHNIQUE; TUMOR LOCALIZATION; TUMOR VASCULARIZATION; UBIQUITINATION; VON HIPPEL LINDAU DISEASE;

ADRENAL GLAND NEOPLASMS; CARCINOMA, RENAL CELL; CENTRAL NERVOUS SYSTEM NEOPLASMS; HEMANGIOBLASTOMA; HIPPEL-LINDAU DISEASE; HUMANS; KIDNEY DISEASES, CYSTIC; KIDNEY NEOPLASMS; MAGNETIC RESONANCE IMAGING; PANCREATIC CYST; PANCREATIC NEOPLASMS; PHEOCHROMOCYTOMA; RETINAL NEOPLASMS; TOMOGRAPHY, X-RAY COMPUTED; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 33745879744     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyl052     Document Type: Review

References (20)

1. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
2. Kaelin WG Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2:673-82.
3. Von Hippel E. Die anatomische Grund lage der von mir beschriebenen 'sehr seltenen Erkrankung der Netzhaut'. Graefes Arch Ophthalmol 1911;79:350-77.
4. Lindau A. Studien uber Kleinhirncysten. Bau, Pathogenese und Bezoejimgem zur Angiomatosis retinae. Acta Pathol Microbiol Scand 1926;(Suppl 1):1-128.
5. Melmon KL, Rosen SW. Lindau's disease. Am J Med 1964;36:595-617.
6. Gnarra JR, Duan DR, Weng Y, Humphrey JS, Chen DY, Lee S, et al. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta 1996;1242:201-10.
7. Hergovich A, Lisztwan J, Barry R, Ballschmieter P, Krek W. Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. Nat Cell Biol 2003;5:64-70.
8. Okuda H, Saitoh K, Hirai S, Iwai K, Takaki Y, Shuin T, et al. The von Hippel-Lindau tumor suppressor protein mediates ubiquitination of activated atypical protein kinase C. J Biol Chem 2001;276:43611-7.
9. Kaelin WG Jr. The von Hippel-Lindau gene, kidney cancer, and oxygen sensing. J Am Soc Nephrol 2003;14:2703-11.
10. Schnell PO, Ignacak ML, Bauer AL, Striet JB, Paulding WR, Czyzyk-Krzeska MF. Regulation of tyrosine hydroxylase promoter activity by the von Hippel-Lindau tumor suppressor protein and hypoxia-inducible transcription factors. J Neurochem 2003;85:483-91.
11. Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial Pheo genes: developmental culling and cancer. Cancer Cell 2005;8:155-67.
12. Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. Von Hippel-Lindau disease. The Lancet 2003;361:2059-67.
13. Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002;32:614-21.
14. Hammel PR, Vilgrain V, Terris B, Penfornis A, Sauvanet A, Correas JM, et al. Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau. Gastroenterology 2000;119:1087-95.
15. Hernberg M, Virkkunen P, Bono P, Ahtinen H, Maenpaa H, Joensuu H. Interferon alfa-2b three times daily and thalidomide in the treatment of metastatic renal cell carcinoma. J Clin Oncol 2003;21:3770-6.
16. Lara PN Jr, Quinn DI, Margolin K, Meyers FJ, Longmate J, Frankel P, et al. The cyclin-dependent kinase inhibitor UCN-01 plus cisplatin in advanced solid tumors: A California cancer consortium phase I pharmacokinetic and molecular correlative trial. Clin Cancer Res 2005;9:4772-81.
17. Michaelson MD, Redman BG, Hudes GR, Wilding G, Rini BI, George DJ, et al. Phase 2 trials of SU11248 show antitumor activity in second-line therapy for patients with metastatic renal cell carcinoma (RCC). 2005 ASCO Annual Meeting, May 13-17, 2005, Orlando, FL.
18. Rini B, Rixe O, Bukowski R, Michaelson MD, Wilding G, Hudes G, et al. AG-013736, a multi-target tyrosine kinase receptor inhibitor, demonstrates anti-tumor activity in a phase 2 study of cytokine-refractory, metastatic renal cell cancer (RCC). 2005 ASCO Annual Meeting, May 13-17, 2005, Orlando, FL.
19. Web site of VHL family alliance in America: http://www.vhl.org/, in Japan. http://www1.odn.ne.jp/vhl_japan/
20. Web site of Department of Urology, Kochi University, School of Medicine. http://www.kochi-ms.ac.jp/~fm_urol/japanese/vhl.htm.