Haemangioblastoma of the central nervous system in von Hippel–Lindau disease

@article{Richard1998HaemangioblastomaOT,
  title={Haemangioblastoma of the central nervous system in von Hippel–Lindau disease},
  author={Richard and Campello and Taillandier and Parker and Resche},
  journal={Journal of Internal Medicine},
  year={1998},
  volume={243}
}
Richard S, Campello C, Taillandier L, Parker F, Resche F (Hôpital Necker, Paris, CHU Hôpital Caremeau, Nîmes, CHU Hôpital Saint‐Julien, Nancy, CHU Hôpital de Bic tre, Le Kremlin‐Bic tre, Hôpital Laennec, Nantes, France). Haemangioblastoma of the central nervous system in von Hippel–Lindau disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 547–53. 

[Von Hippel-Lindau disease].

von Hippel–Lindau (vHL) is an autosomal dominant heritable disorder that results in the formation of multiple tumors including neuraxial hemangioblastoma, retinal hemangioblastoma, endolymphatic sac

Von Hippel-Lindau Disease

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.

Hemangioblastomas of the central nervous system

Von Hippel–Lindau Syndrome

The chief features of the von Hippel–Lindau syndrome are tumors, both benign and malignant, and multiple visceral cysts are common as well.

von Hippel-Lindau disease

Von Hippel-Lindau disease: gene to bedside

  • K. Sims
  • Medicine
    Current opinion in neurology
  • 2001
Current understanding of the biology of the von Hippel-Lindau protein, its role in the pathophysiology of this disorder and the consequent implications for future therapeutic/interventional strategies are reviewed.

VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT.

A case of a young 20 years old female who presented to the department with von Hipple Lindau disease is reported, which is a rare genetic autosomal dominant disorder.

von Hippel-Lindau disease.

The highly vascular nature of VHL-associated neoplasms can be understood in light of the recent finding that the VHL gene product (pVHL) inhibits the accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor (VEGF), under normoxic conditions.

Von Hippel-Lindau disease: a radiological essay.

The purpose of this pictorial review is to depict the various radiological manifestations that are commonly seen in Von Hippel-Lindau disease.
...

References

SHOWING 1-10 OF 31 REFERENCES

Haemangioblastoma, haemangioblastomatosis, and von Hippel-Lindau disease.

Haemangioblastoma is the archetypal vascular neoplasm of the central nervous system (CNS) and constitutes the retinal and neuraxial component of von Hippel-Lindau (VHL) phakomatosis.

Von Hippel‐Lindau Syndrome

It has been appreciated that patients with VHL may develop endolymphatic sac tumors, which can cause tinnitus or deafness, and a family history of pheochromocytoma in association with V HL is an indication for thorough surveillance for phechromocyToma in affected family members.

Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome.

The authors suggest the need for a screening program for patients with HBL of the CNS which is designed to confirm or exclude ocular or visceral lesions associated with von Hippel-Lindau syndrome.

[Does hemangioblastoma exist outside von Hippel-Lindau disease?].

All patients with an apparently isolated central nervous system hemangioblastoma should be investigated for evidence of von Hippel-Lindau (VHL) disease, according to the findings of a preliminary 10-year study conducted in France.

Von Hippel‐Lindau Disease Affecting 43 Members of a Single Kindred

This study has demonstrated the utility and benefit of preventive surveillance in those known to have vHL, and of presymptomatic screening for affected relatives in families with vHL.

von Hippel-Lindau disease affecting 43 members of a single kindred.

This study has demonstrated the utility and benefit of preventive surveillance in those known to have vHL, and of presymptomatic screening for affected relatives in families with vHL.

MUTATION OF THE VON HIPPEL–LINDAU TUMOUR SUPPRESSOR GENE IN CAPILLARY HAEMANGIOBLASTOMAS OF THE CENTRAL NERVOUS SYSTEM

The results suggest that mutation of the VHL tumour suppressor gene represents a significant event in the development of capillary haemangioblastomas.

Germline mutations in the Von Hippel-Lindau ( VHL ) gene

Results indicate that at least 12% of the germline mutations in the VHL gene occur de novo, which may indicate reduced penetrance of VHL disease and has implications for genetic counselling.

A genetic register for von Hippel-Lindau disease.

Fourteen percent of all CNS haemangioblastomas on the regionally based Cancer Registry were found to occur as part of VHL disease, but investigations for VHL in apparently sporadic disease appeared to be limited.