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Literature DB >> 21386872

von Hippel-Lindau disease: a clinical and scientific review.

Eamonn R Maher¹, Hartmut Ph Neumann, Stéphane Richard.

Abstract

The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

Entities: Disease Gene

Mesh：

Substances：

Year: 2011 PMID： 21386872 PMCID： PMC3110036 DOI： 10.1038/ejhg.2010.175

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

76 in total

1. Immunostaining of the von Hippel-Lindau gene product in normal and neoplastic human tissues.

Authors: C L Corless; A S Kibel; O Iliopoulos; W G Kaelin
Journal: Hum Pathol Date: 1997-04 Impact factor: 3.466

2. Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress.

Authors: C R M Lammens; E M A Bleiker; S Verhoef; F J Hes; M G E M Ausems; D Majoor-Krakauer; R H Sijmons; R B van der Luijt; A M W van den Ouweland; T A M Van Os; N Hoogerbrugge; E B Gómez García; C J Dommering; C M Gundy; N K Aaronson
Journal: Clin Genet Date: 2010-02-11 Impact factor: 4.438

3. Genetic analysis of von Hippel-Lindau disease.

Authors: Morgan Nordstrom-O'Brien; Rob B van der Luijt; Ellen van Rooijen; Ans M van den Ouweland; Danielle F Majoor-Krakauer; Martijn P Lolkema; Aram van Brussel; Emile E Voest; Rachel H Giles
Journal: Hum Mutat Date: 2010-05 Impact factor: 4.878

4. Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease.

Authors: Diana Bätschmann Zanotelli; Elisabeth Bruder; Edward Wight; Carolyn Troeger
Journal: Arch Gynecol Obstet Date: 2010-02-16 Impact factor: 2.344

5. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

Authors: Zoran Erlic; Ursula Ploeckinger; Alberto Cascon; Michael M Hoffmann; Laura von Duecker; Aurelia Winter; Gerit Kammel; Janina Bacher; Maren Sullivan; Berend Isermann; Lars Fischer; Andreas Raffel; Wolfram Trudo Knoefel; Matthias Schott; Tobias Baumann; Oliver Schaefer; Tobias Keck; Richard P Baum; Ioana Milos; Mihaela Muresan; Mariola Peczkowska; Andrzej Januszewicz; Kenko Cupisti; Anke Tönjes; Mathias Fasshauer; Jan Langrehr; Peter von Wussow; Abbas Agaimy; Günter Schlimok; Regina Lamberts; Thorsten Wiech; Kurt Werner Schmid; Alexander Weber; Mercedes Nunez; Mercedes Robledo; Charis Eng; Hartmut P H Neumann
Journal: Endocr Relat Cancer Date: 2010-10-05 Impact factor: 5.678

6. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.

Authors: H Brauch; T Kishida; D Glavac; F Chen; F Pausch; H Höfler; F Latif; M I Lerman; B Zbar; H P Neumann
Journal: Hum Genet Date: 1995-05 Impact factor: 4.132

7. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

Authors: F M Richards; S J Payne; B Zbar; N A Affara; M A Ferguson-Smith; E R Maher
Journal: Hum Mol Genet Date: 1995-11 Impact factor: 6.150

8. Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.

Authors: F M Richards; P N Schofield; S Fleming; E R Maher
Journal: Hum Mol Genet Date: 1996-05 Impact factor: 6.150

9. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

Authors: E R Maher; A R Webster; F M Richards; J S Green; P A Crossey; S J Payne; A T Moore
Journal: J Med Genet Date: 1996-04 Impact factor: 6.318

10. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.

Authors: Christopher Ricketts; Maurice P Zeegers; Jan Lubinski; Eamonn R Maher
Journal: PLoS One Date: 2009-06-24 Impact factor: 3.240

154 in total

1. An analysis of five clear cell papillary cystadenomas of mesosalpinx and broad ligament: four associated with von Hippel-Lindau disease and one aggressive sporadic type.

Authors: Francisco F Nogales; Pablo Goyenaga; Ovidiu Preda; Alina Nicolae; Begoña Vieites; Maria Carmen Ruiz-Marcellan; Alberto Pedrosa; Maria J Merino
Journal: Histopathology Date: 2012-02-01 Impact factor: 5.087

von Hippel-Lindau disease: a clinical and scientific review.

1. Immunostaining of the von Hippel-Lindau gene product in normal and neoplastic human tissues.

2. Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress.

3. Genetic analysis of von Hippel-Lindau disease.

4. Bilateral papillary cystadenoma of the mesosalpinx: a rare manifestation of Von Hippel-Lindau disease.

5. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

6. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.

7. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

8. Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.

9. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

10. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.

1. An analysis of five clear cell papillary cystadenomas of mesosalpinx and broad ligament: four associated with von Hippel-Lindau disease and one aggressive sporadic type.

Review 2. Targeting the RhoGTPase/ROCK pathway for the treatment of VHL/HIF pathway-driven cancers.

3. Clinical utility gene card for: von Hippel-Lindau (VHL).

Review 4. Translational research in endocrine surgery.

Review 5. Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?

Review 6. [Tumors of the posterior cranial fossa].

7. Concomitant Heart, Ovaries, and Renal Neoplasms: Atypical Findings During Hypertension Evaluation.

Review 8. Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease.

9. Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.

10. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.