Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

F. J. Hes; S. McKee; M. J. Taphoorn; P. Rehal; R. B. van Der Luijt; R McMahon; J. J. van Der Smagt; D. Dow; R. A. Zewald; J. Whittaker; C. J. Lips; F. MacDonald; P. L. Pearson; E. R. Maher

doi:10.1136/jmg.37.12.939

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

F. J. Hes, S. McKee, M. J. Taphoorn, P. Rehal, R. B. van Der Luijt, R McMahon, J. J. van Der Smagt, D. Dow, R. A. Zewald, J. Whittaker, C. J. Lips, F. MacDonald, P. L. Pearson, E. R. Maher

Department of Life Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients.

Original language	English
Pages (from-to)	939-943
Number of pages	5
Journal	Journal of Medical Genetics
Volume	37
Issue number	12
DOIs	https://doi.org/10.1136/jmg.37.12.939
Publication status	Published - Dec 2000

Keywords

Adolescent
Adult
Aged
Central Nervous System Neoplasms
Diagnosis, Differential
Female
Gene Frequency
Germ-Line Mutation
Hemangioblastoma
Humans
Male
Middle Aged
Morbidity
Pedigree
von Hippel-Lindau Disease

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Hes, F. J., McKee, S., Taphoorn, M. J., Rehal, P., van Der Luijt, R. B., McMahon, R., van Der Smagt, J. J., Dow, D., Zewald, R. A., Whittaker, J., Lips, C. J., MacDonald, F., Pearson, P. L., & Maher, E. R. (2000). Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. Journal of Medical Genetics, 37(12), 939-943. https://doi.org/10.1136/jmg.37.12.939

@article{7aee809e6f454a2090eeb04a16900367,

title = "Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only",

abstract = "Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients.",

keywords = "Adolescent, Adult, Aged, Central Nervous System Neoplasms, Diagnosis, Differential, Female, Gene Frequency, Germ-Line Mutation, Hemangioblastoma, Humans, Male, Middle Aged, Morbidity, Pedigree, von Hippel-Lindau Disease",

author = "Hes, {F. J.} and S. McKee and Taphoorn, {M. J.} and P. Rehal and {van Der Luijt}, {R. B.} and R McMahon and {van Der Smagt}, {J. J.} and D. Dow and Zewald, {R. A.} and J. Whittaker and Lips, {C. J.} and F. MacDonald and Pearson, {P. L.} and Maher, {E. R.}",

year = "2000",

month = dec,

doi = "10.1136/jmg.37.12.939",

language = "English",

volume = "37",

pages = "939--943",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "12",

}

Hes, FJ, McKee, S, Taphoorn, MJ, Rehal, P, van Der Luijt, RB, McMahon, R, van Der Smagt, JJ, Dow, D, Zewald, RA, Whittaker, J, Lips, CJ, MacDonald, F, Pearson, PL & Maher, ER 2000, 'Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only', Journal of Medical Genetics, vol. 37, no. 12, pp. 939-943. https://doi.org/10.1136/jmg.37.12.939

TY - JOUR

T1 - Cryptic von Hippel-Lindau disease

T2 - germline mutations in patients with haemangioblastoma only

AU - Hes, F. J.

AU - McKee, S.

AU - Taphoorn, M. J.

AU - Rehal, P.

AU - van Der Luijt, R. B.

AU - McMahon, R

AU - van Der Smagt, J. J.

AU - Dow, D.

AU - Zewald, R. A.

AU - Whittaker, J.

AU - Lips, C. J.

AU - MacDonald, F.

AU - Pearson, P. L.

AU - Maher, E. R.

PY - 2000/12

Y1 - 2000/12

N2 - Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients.

AB - Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients.

KW - Adolescent

KW - Adult

KW - Aged

KW - Central Nervous System Neoplasms

KW - Diagnosis, Differential

KW - Female

KW - Gene Frequency

KW - Germ-Line Mutation

KW - Hemangioblastoma

KW - Humans

KW - Male

KW - Middle Aged

KW - Morbidity

KW - Pedigree

KW - von Hippel-Lindau Disease

UR - http://hdl.handle.net/2160/12585

U2 - 10.1136/jmg.37.12.939

DO - 10.1136/jmg.37.12.939

M3 - Article

C2 - 11106358

SN - 0022-2593

VL - 37

SP - 939

EP - 943

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

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Keywords

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