Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Seizinger, Bernd R.; Smith, Jeremy C.; Filling-Katz, M. R.; Neumann, Hartmut P. H.; Green, J S; Choyke, PeterL; Anderson, K M; Freiman, Richard N.; Klauck, Sabine M.; Whaley, Jean M.

doi:10.1073/pnas.88.7.2864

Cited by 102 publications

(27 citation statements)

References 26 publications

(28 reference statements)

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“…1,5) Neither these cases nor the present case fulfilled the currently accepted clinical diag nostic criteria of VHL disease. 8) However, one of the two previous patients with hyperparathyroidism and hemangioblastoma also had multiple lesions including a liver hemangioma, a thyroid adenoma, and two right kidney cysts, which overlaps with the spectrum of neoplasms observed in VHL disease. Therefore, we tested for the involvement of VHL gene inactivation in our patient.…”

Section: Discussionmentioning

confidence: 99%

Cerebellar Hemangioblastoma Associated With Primary Hyperparathyroidism. Case Report.

Ogiwara

Ichi

Ueki

et al. 2003

Neurol. Med. Chir.(Tokyo)

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A 57yearold man presented with a posterior fossa hemangioblastoma associated with primary hyper parathyroidism. The hemangioblastoma was completely removed. Further imaging found parathyroid and thyroid tumors which were resected. Hyperparathyroidism might be a manifestation of von Hippel Lindau (VHL) disease, but sequencing of the VHL gene of the constitutional deoxyribonucleic acid of the hemangioblastoma was negative. The present association is rare, but the hemangioblastoma and the parathyroid adenoma may have some germline mutation in common.

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Section: Discussionmentioning

confidence: 99%

Cerebellar Hemangioblastoma Associated With Primary Hyperparathyroidism. Case Report.

Ogiwara

Ichi

Ueki

et al. 2003

Neurol. Med. Chir.(Tokyo)

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“…Various mutations have been documented in this gene, whose product inhibits transcription elongation by binding to a cellular transcription factor, Elongin (Tory et al 1989;Hosoe et al 1990;Maher et al 1991;Seizinger et al 1991;Yao et al 1993;Crossey et al 1993 and1994a,b;Clinical Research Group for VHL in Japan 1995;Duan et al 1995;Kibel et al 1995).…”

Section: Introductionmentioning

confidence: 99%

A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene

et al. 2000

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Various mutations in the VHL gene on chromosome 3p25-26 are responsible for von Hippel-Lindau (VHL) syndrome. We report on a Japanese VHL family in which two of the three affected members developed acute occlusive hydrocephalus that necessitated emergency surgery for ventricular shunt or drainage. Direct sequencing and restriction fragment length polymorphism analysis identified a germline missense mutation, Proline-toLeucine, caused by a C-to-T transition at the second nucleotide of codon 157.

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“…Endolymphatic sac tumours and multiple pancreatic cysts also suggest a positive carrier status in those families and are uncommon in the general population. In patients with a negative family history multiple haemangioblastomas or a single haemangioblastoma in association with a phaeochromocytoma or RCC are required for a clinical diagnosis [4,5,6,7]. …”

Section: Introductionmentioning

confidence: 99%

Benefits of Screening in von Hippel-Lindau Disease – Comparison of Morbidity Associated with Initial Tumours in Affected Parents and Children

et al. 2006

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Von Hippel-Lindau (VHL) is a rare autosomal dominant syndrome characterised by the association of retinal and CNS haemangioblastomas, phaeochromocytoma and renal cell carcinoma. If a child of an affected parent has inherited a VHL mutation or the parent’s mutation cannot be identified, then clinical screening is recommended. We report the clinical features in three parent-offspring pairs where the parents have presented clinically with renal cell carcinoma, phaeochromocytoma, cerebellar haemangioblastoma and retinal haemangioma, and the children have undergone pre-symptomatic screening. During the first screening a 13-year-old boy was diagnosed with bilateral phaeochromocytoma and later developed an endolymphatic sac tumour at 19 years. A right phaeochromocytoma was found in a 12-year-old girl who was screened from the age of 4 years and in a 13-year-old boy screened from 5 years of age. All children were asymptomatic at the time of diagnosis. These families demonstrate that clinical screening of children at risk of VHL can detect tumours before the first symptoms arise with a consequent reduction in morbidity. These observations strongly support the recommendation to undertake screening of the children of VHL patients.

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Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

Abstract: Von 2864The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.

Cited by 102 publications

References 26 publications

Cerebellar Hemangioblastoma Associated With Primary Hyperparathyroidism. Case Report.

Cerebellar Hemangioblastoma Associated With Primary Hyperparathyroidism. Case Report.

A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene

Benefits of Screening in von Hippel-Lindau Disease – Comparison of Morbidity Associated with Initial Tumours in Affected Parents and Children

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