Limits...
Von hippel-lindau disease.

Hes FJ, Höppener JW, Luijt RB, Lips CJ - Hered Cancer Clin Pract (2005)

Bottom Line: A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas.Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma.A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.

View Article: PubMed Central - HTML - PubMed

Affiliation: Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden. f.j.hes@lumc.nl.

ABSTRACT
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-alpha (HIF1-alpha). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.

No MeSH data available.


Related in: MedlinePlus

Tumours in VHL disease.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC2837060&req=5

Figure 1: Tumours in VHL disease.

Mentions: A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in multiple organs. These tumours may include haemangioblastoma in the retina (also referred to as retinal angioma), cerebellum and myelum, renal cell carcinoma (clear cell type), phaeochromocytoma, islet cell tumours of the pancreas, and endolymphatic sac tumours, as well as cysts and cystadenoma in the kidney, pancreas, epididymis and broad ligament (Fig. 1) [1-3]. VHL disease is an autosomal, dominant inherited tumour syndrome with an estimated prevalence of 2-3 per 100,000 persons (OMIM #193300) [4]. At present, metastases from renal cell carcinoma and neurological complications from cerebellar haemangioblastoma are the most common causes of death [5].


Von hippel-lindau disease.

Hes FJ, Höppener JW, Luijt RB, Lips CJ - Hered Cancer Clin Pract (2005)

Tumours in VHL disease.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2837060&req=5

Figure 1: Tumours in VHL disease.
Mentions: A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in multiple organs. These tumours may include haemangioblastoma in the retina (also referred to as retinal angioma), cerebellum and myelum, renal cell carcinoma (clear cell type), phaeochromocytoma, islet cell tumours of the pancreas, and endolymphatic sac tumours, as well as cysts and cystadenoma in the kidney, pancreas, epididymis and broad ligament (Fig. 1) [1-3]. VHL disease is an autosomal, dominant inherited tumour syndrome with an estimated prevalence of 2-3 per 100,000 persons (OMIM #193300) [4]. At present, metastases from renal cell carcinoma and neurological complications from cerebellar haemangioblastoma are the most common causes of death [5].

Bottom Line: A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas.Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma.A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.

View Article: PubMed Central - HTML - PubMed

Affiliation: Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden. f.j.hes@lumc.nl.

ABSTRACT
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-alpha (HIF1-alpha). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.

No MeSH data available.


Related in: MedlinePlus